Gene Gene Symbol SNP Number Exon Position in Exon Confirmation Call Quality Consensus Heterozygosity Class Population detected Location in gene Amino Acid 1 Amino Acid 2 Type of Amino Acid Change Codon Position Codon 1 Codon 2 GenBank Accession # Allele 1 Allele 1 Frequency Allele 2 Allele 2 Frequency Flanking Sequence Adenosine Deaminase ADA CHAK00916 N/A (+)6888 WIAF-1330 N/A N/A Literature Search Intron N/A N/A N/A 0 N/A N/A N/A G N/A A N/A ACCATCTTATACTATGGCAGGTAAGTCCATACAGAAGAGCCCTCTCTCCCTGGGATTTGAGTGGGGTCCCCAGCTCCACCCAGAGGCCCCTGGGGAATTCCAGGGTCACTGTTCCTTCCTGTCTCCCTGTGGGAATCAAGCCAGCTCCAGGCCAGAAGTGGGACTGTGAGGACATGGAGGCCTC*GCACTGAGCTGCAGACCCGCAGACCAACTCCTGAGCTTTCTGGGCCTCTGAGTCTTGTCCTC Alpha Adducin ADD1 CHAK00001 1 305 Not Confirmed Likely Rare African 5' UTR N/A N/A N/A 0 N/A N/A L29288 G 0.95 A 0.05 AGGGGCTGAGGGGCGGAGAGGCCTGGCGGGCGCTGCGGGCCAGGGGACGGGGGCGGAGCC*GAGCCGGAGCCGACGGGCGGTGGCCGCACTGGGACCCCGGAATCCCGCGCGCTGCCCACG Alpha Adducin ADD1 CHAK00002 10 246 Confirmed Certain Medium U.S. White Coding Gly Trp Nonsynonymous 1 GGG TGG L29294 G 0.85 T 0.15 CAGCAGCGGGAGAAGACAAGATGGCTGAACTCTGGCCGGGGCGACGAAGCTTCCGAGGAA*GGCAGAATGGAAGCAGTCCCAAGTCGAAGACTAAGGTGTGGACGAACATTACACACGATC Alpha Adducin ADD1 CHAK00003 12 43 Not Confirmed Likely Rare U.S. White Coding Asn Ile Nonsynonymous 2 AAT ATT L29297 A 0.95 T 0.05 ATGGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGA*TTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGA Alpha Adducin ADD1 CHAK00004 13 173 Confirmed Likely High Both Coding Ser Cys Nonsynonymous 2 TCT TGT L29295 C 0.6 G 0.4 CACTCACAGACCGTGAGCTGGAGGAGTACCGCAGGGAGGTGGAGAGGAAGCAGAAGGGCT*TGAAGGTGAGTGCTTGTGGTCCTGGGCACGGCCACTCCAGAAGGTGAAAGTGCTCTGGGA Alpha Adducin ADD1 CHAK00005 15 74 Not Confirmed Certain Medium Both Intron N/A N/A N/A 0 N/A N/A L29296 C 0.75 T 0.25 CTNNNNNNACAAGCAGGAGACGGATGCGCTAGAGAGTACCTGTTACCCTAGTAAGTACCG*GCTGCCTCCGCTCTCCACCGGTGCCCTGCGCTTTGCCTCATTCTCCTGCTTCTTTGT Alpha Adducin ADD1 CHAK00006 16 691 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A L29296 C 0.95 G 0.05 GAGGCACTAAGTCATGGTCCTGGCTGGAAGGTACTGAAGGCTTCTGCAGCTTTGGCTGCA*GTCACCCTCCTGAGCCTCACCTTTCCTGCCGTCCCTCCTGTTGTGAAATCACCACATTCT Alpha Adducin ADD1 CHAK00007 16 995 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A L29296 C 0.95 T 0.05 AGGAAACCCCAGCGGCAGATGGGCCTGTGTGCACCCAACGTGATGCTATGCATGTCTGAC*GACGATCCCTCGACCAGAATCAGATTCAGGAGCTCAGTTTCTTTTTCACTTGGGTCTCTG Alpha Adducin ADD1 CHAK00008 16 1071 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A L29296 G 0.95 A 0.05 AGAATCAGATTCAGGAGCTCAGTTTCTTTTTCACTTGGGTCTCTGGATTCCTGTCATAGG*AAGGTATATCAGGAGGGGAAGAGGCCTTTCTAGAATTTTCTTTGAGCAGGTTTACAATTT Alpha Adducin ADD1 CHAK00009 16 1321 Not Confirmed Likely Rare U.S. White 3' UTR N/A N/A N/A 0 N/A N/A L29296 C 0.95 T 0.05 GAAAGATGCCCTAGTTGTGATCAAAGGTAACTCGAGGTGGAGGGTAGCCCTGGGGCCCCT*GACATCACCGTCATTGATGGAGCCTGAACCGTGTGCTCCTCGGCAGATGCTGTTGTTGTT Alpha Adducin ADD1 CHAK00010 16 1328 Not Confirmed Likely Low African 3' UTR N/A N/A N/A 0 N/A N/A L29296 A 0.9 G 0.1 GCCCTAGTTGTGATCAAAGGTAACTCGAGGTGGAGGGTAGCCCTGGGGCCCCTCGACATC*CCGTCATTGATGGAGCCTGAACCGTGTGCTCCTCGGCAGATGCTGTTGTTGTTACTTCCC Alpha Adducin ADD1 CHAK00011 16 1478 Not Confirmed Likely Low African 3' UTR N/A N/A N/A 0 N/A N/A L29296 A 0.9 G 0.1 GCTGAGCAGGAACCGGAGGGTGACCCATTTCAGGAGGTGCCGGTACCAGCCTGACTAGGT*CAGGCAAGCTTGTGTGGGCCCAACAGGCCCTTGGTAGAGCTGGTGCCAGATGTGGGCTCA Alpha Adducin ADD1 CHAK00012 2 31 Not Confirmed Likely Rare African 5' UTR N/A N/A N/A 0 N/A N/A L29293 A 0.95 G 0.05 ATGAAACACTGTTAGACATTGATTTGAAAACAATAATTTCTTTTATTTTGATTCTGTAGG*ACCTAGAAAGATTGTACAATGAATGGTGATTCTCGTGCTGCGGTGGTGACCTCACCACCC Alpha Adducin ADD1 CHAK00013 7 96 Not Confirmed Likely Rare U.S. White Coding Tyr Asn Nonsynonymous 1 TAT AAT L29291 T 0.95 A 0.05 GCAATGAAATGTGGCCTCTTGCCAATCTCCCCGGAGGCGCTTTCCCTTGGAGAAGTGGCT*ATCATGACTACCATGGCATTCTGGTTGATGAAGAGGAAAAAGTTTTGATTCAGAAAAATC Alpha Adducin ADD1 CHAK00014 9 173 Not Confirmed Likely Rare U.S. White Coding Glu Asp Nonsynonymous 3 GAA GAT L29289 A 0.95 T 0.05 AGGGTCTCCGGTAGGGGAAGGCACTGGATCGCCTCCCAAGTGGCAGATTGGTGAGCAGGA*TTTGAAGCCCTCATGCGGATGCTCGATAATCTGGTAAGAATGGTGCCACCACTTGATGAT Beta Adducin ADD2 CHAK00030 10 81 Not Confirmed Likely Rare African Coding Glu Asp Nonsynonymous 3 GAG GAT X58199 G 0.95 T 0.05 ACAGGTGTCGGCTCTGTCCAGTGCCGGGGGAGTGGAGAACCTCATCCTCCTGGAGCAGGA*AAGCACCGGCCCCATGAGGTGGGCTCCGTGCAGTGGGCCGGGAGCACCTTTGGGCCTATG Beta Adducin ADD2 CHAK00031 15 68 Not Confirmed Likely Rare U.S. White Coding Pro Pro Synonymous 3 CCG CCA U43959 G 0.95 A 0.05 AGGAAGAAACTAGAACTTGATGAGACAGGACAGGAACGAGAGCCAGGCTCTGGTCCGGCC*TGTGCGAGTTCTTCAGCGTTGCCCTCCACATCTGGAGTAACATATTGGAGAGAAAGAAAC Beta Adducin ADD2 CHAK00032 15 85 Confirmed Likely Medium Both Coding Ala Val Nonsynonymous 2 GCG GTG U43959 C 0.9 T 0.1 TGATGAGACAGGACAGGAACGAGAGCCAGGCTCTGGTCCGGCCGTGTGCGAGTTCTTCAG*GTTGCCCTCCACATCTGGAGTAACATATTGGAGAGAAAGAAACTGCCCCAGAAGAGCCTG Beta Adducin ADD2 CHAK00033 17 147 Not Confirmed Likely Rare African Coding Ser Arg Nonsynonymous 3 AGC AGA X58199 C 0.95 A 0.05 GCCGGAAGGGGTGGTGGTCAACGGGAGGGAGGAGGAGCAGACGGCAGAGGAAATCCTCAG*AAAGGCCTGAGCCAGATGACCACCAGTGCTGACACGGATGTTGATACCTCTAAGGACAAA Beta Adducin ADD2 CHAK00034 3 138 Not Confirmed Likely Low African Coding Asp Asn Nonsynonymous 1 GAC AAC X58199 G 0.9 A 0.1 GAGGCTGCCTCGCCGCCGCCCCCGCAGGGGCAGCCTTACTTTGACCGCTTCTCAGAGGAC*ACCCCGAGTACATGCGCCTTCGCAACCGGGCGGCGGACCTGCGGCAGGACTTCAACCTGA Beta Adducin ADD2 CHAK00035 4 134 Not Confirmed Likely Rare African Coding Ser Cys Nonsynonymous 2 TCC TGC X58199 C 0.95 G 0.05 GGAACAACTCCTCCAACATCTGGGCCCTGCGACAGATCGCGGACTTCATGGCCAGCACCT*CCACGCAGTCTTCCCGACATCTTCCATGAATGTCTCCATGATGACGCCTATCAATGACCT Beta Adducin ADD2 CHAK00036 8 173 Not Confirmed Likely Rare U.S. White Intron N/A N/A N/A 0 N/A N/A AC005234 A 0.95 G 0.05 ATGGAGCAGGAAGCCGATCGGATCAACCTGCAGAAGTGCCTTGGACCCACCTGCAAGGTT*GCTTAGCTCTTCTGGGACAATAATCTAGAGTGGCATTGTCAAAAGCCAACATCACAAAAG Beta Adducin ADD2 CHAK00037 9 69 Not Confirmed Likely Rare African Coding Phe Phe Synonymous 3 TTT TTC X58199 T 0.95 C 0.05 GATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATT*TACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGTCGGCTCTGTCCAGTGCC Gamma Adducin ADD3 CHAK00875 N/A 2087 Not Confirmed Likely N/A cDNA 3' UTR N/A N/A N/A 0 N/A N/A U37122 T N/A C N/A GTTGAGGCCTAAATAAAGTCTTTTTATAATTATTATTATAACAATGTGACATTGCACATC*AAATACCACATTTAAGTTGATCATTAATATGCAATGGTAGATCAGATTGGGGGATGTAGC Adrenomedullin ADM CHAK00049 1 154 Not Confirmed Likely Rare African Promoter N/A N/A N/A 0 N/A N/A D43639 G 0.95 T 0.05 CCCCTCTCTGAGCTTGAATTTTCTACCTGCTGAAATGGGAAAAGGAATGTTACCTTCCTT*CCTGACTCAAGGGTGGCTGTGAAGCTCAAAGTAGACTGGGATGTGGCCGTGCTTGGTAAA Adrenomedullin ADM CHAK00050 1 723 Not Confirmed Likely Rare African Promoter N/A N/A N/A 0 N/A N/A D43639 C 0.95 T 0.05 AGCTCCCCAGGTCCAGGGCTCGGGCCATCCGCGCTGTCCCTTCCGCGGGCTCTTGCTGTT*TTCGCCAGGAGGCTTTGCACTCCGGGCCGCATGGGTCCTGGATAAGGACCTCAAGAGGTT Adrenomedullin ADM CHAK00051 1 981 Not Confirmed Likely Rare U.S. White Promoter N/A N/A N/A 0 N/A N/A D43639 G 0.95 A 0.05 CCCCCATCCCAACTCCAGCCCCAAAGGAAGCAATGCGCGCGTCCGAGAGCAGGAGCGCGC*TGGCTGAGGAAAGAAAGGGAAGGCAACCGGGCAGCCCAGGCCCCGCCCCGCCGCTCCCCC Adrenomedullin ADM CHAK00052 1 1197 Not Confirmed Likely Rare U.S. White 5' UTR N/A N/A N/A 0 N/A N/A D43639 C 0.95 T 0.05 TTCTCACTGCAGCTGGGCTTGGACTTCGGAGTTTTGCCATTGCCAGTGGGACGTCTGAGA*TTTCTCCTTCAAGTACTTGGCAGATCACTCTCTTAGCAGGTAGGTGCCGCAGACCCTGCG Adrenomedullin ADM CHAK00053 2 101 Not Confirmed Certain Rare African Coding Leu Leu Synonymous 3 CTA CTC D43639 A 0.95 C 0.05 CGCAGCCGGGATGAAGCTGGTTTCCGTCGCCCTGATGTACCTGGGTTCGCTCGCCTTCCT*GGCGCTGACACCGCTCGGTTGGATGTCGCGTCGGAGTTTCGAAAGAAGTGAGTCCGGGCA Adrenomedullin ADM CHAK00054 3 81 Not Confirmed Likely Low African Coding Ser Arg Nonsynonymous 3 AGC AGG D43639 C 0.95 G 0.05 GTTTTCCAGGTGGAATAAGTGGGCTCTGAGTCGTGGGAAGAGGGAACTGCGGATGTCCAG*AGCTACCCCACCGGGCTCGCTGACGTGAAGGCCGGGCCTGCCCAGACCCTTATTCGGCCC Adrenomedullin ADM CHAK00055 4 388 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D43639 G 0.95 C 0.05 CACTTTCTTTAGGATTTAGGCGCCCATGGTACAAGGAATAGTCGCGCAAGCATCCCGCTG*TGCCTCCCGGGACGAAGGACTTCCCGAGCGGTGTGGGGACCGGGCTCTGACAGCCCTGCG Adrenomedullin ADM CHAK00056 4 536 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D43639 T 0.95 G 0.05 CGGCGGCGAGCTCTGGCTTTGCAAGGGCCCCTCCTTCTGGGGGCTTCGCTTCCTTAGCCT*GCTCAGGTGCAAGTGCCCCAGGGGGCGGGGTGCAGAAGAATCCGAGTGTTTGCCAGGCTT Adrenomedullin ADM CHAK00057 4 918 Not Confirmed Certain Low African 3' UTR N/A N/A N/A 0 N/A N/A D43639 A 0.9 G 0.1 ATATTGTATTAAGGGCATTTTAAAAGCAATTATATTGTCCTCCCCTATTTTAAGACGTGA*TGTCTCAGCGAGGTGTAAAGTTGTTCGCCGCGTGGAATGTGAGTGTGTTTGTGTGCATGA Adrenomedullin ADM CHAK00058 4 1033 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D43639 T 0.95 C 0.05 GCATGAAAGAGAAAGACTGATTACCTCCTGTGTGGAAGAAGGAAACACCGAGTCTCTGTA*AATCTATTTACATAAAATGGGTGATATGCGAACAGCAAACCAATAAACTGTCTCAATGCT Adrenomedullin ADM CHAK00059 4 1292 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D43639 A 0.95 G 0.05 TGAGCTGTCACGAGCTCTGTTCTCTGTGTGGGGCGCGCAGAACACGTGTCCTGGGTGCGA*TCAGGGCTTCGCGGAGACGCCCGAGGTCACCGCCTGGCGTGGCGGCCGGCGGGGGGTGGG Adrenomedullin ADM CHAK00060 4 1389 Not Confirmed Likely Rare U.S. White 3' UTR N/A N/A N/A 0 N/A N/A D43639 T 0.95 C 0.05 GCGTGGCGGCCGGCGGGGGGTGGGTAGGGGGAGCCCTAGTGGGTTGGCGAGCCTGGACTC*CGGGTTGCGCAACGGAGTCCTAGATTTATAGGGTTGCTCACAGAACCCGGCGCGAAAGCG Adenosine A2 Receptor ADORA2A CHAK00038 1 429 Not Confirmed Likely Rare African Coding Ala Val Nonsynonymous 2 GCG GTG U40770 C 0.95 T 0.05 CCGTGTGGCTCAACAGCAACCTGCAGAACGTCACCAACTACTTTGTGGTGTCACTGGCGG*GGCCGACATCGCAGTGGGTGTGCTCGCCATCCCCTTTGCCATCACCATCAGCACCGGGTT Adenosine A2 Receptor ADORA2A CHAK00039 2 596 Not Confirmed Likely Rare African Coding Arg His Nonsynonymous 2 CGC CAC U40771 G 0.95 A 0.05 ATTCGGTTGTGAATCCCTTCATCTACGCCTACCGTATCCGCGAGTTCCGCCAGACCTTCC*CAAGATCATTCGCAGCCACGTCCTGAGGCAGCAAGAACCTTTCAAGGCAGCTGGCACCAG Adenosine A2 Receptor ADORA2A CHAK00040 2 741 Not Confirmed Likely Medium African Coding Asn Asn Synonymous 3 AAC AAT U40771 C 0.9 T 0.1 CAGTGACGGAGAGCAGGTCAGCCTCCGTCTCAACGGCCACCCGCCAGGAGTGTGGGCCAA*GGCAGTGCTCCCCACCCTGAGCGGAGGCCCAATGGCTATGCCCTGGGGCTGGTGAGTGGA Adenosine A2 Receptor ADORA2A CHAK00041 2 1230 Not Confirmed Likely Rare U.S. White 3' UTR N/A N/A N/A 0 N/A N/A U40771 G 0.95 T 0.05 GCCACAGCACCAGCAGCATCTTTGCTGGGCAGGCCCAGCCCTCCACTGCAGAAGCATCTG*AAGCACCACCTTGTCTCCACAGAGCAGCTTGGGCACAGCAGACTGGCCTGGCCCTGAGAC Beta 2 Adrenergic Receptor ADRB2 CHAK00917 N/A -47 Kidney Int 1998 Jun;53(6):1455-1460 N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A C N/A T N/A CCCACACCACAGCCGCTGAATGAGGCTTCCAGGCGTCCGCTCGCGGCCCGCAGAGCCCCGCCGTGGGTCCGC*TGCTGAGGCGCCCCCAGCCAGTGCGCTTACCTGCCAGACTGCGCGCCATGGGGCAACCCGGGAACGGCAGCGCCTTCT Beta 2 Adrenergic Receptor ADRB2 CHAK00918 N/A -47 Kidney Int 1998 Jun;53(6):1455-1460 N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A C N/A T N/A CCCACACCACAGCCGCTGAATGAGGCTTCCAGGCGTCCGCTCGCGGCCCGCAGAGCCCCGCCGTGGGTCCGCC*GCTGAGGCGCCCCCAGCCAGTGCGCTTACCTGCCAGACTGCGCGCCATGGGGCAACCCGGGAACGGCAGCGCCTTCT Beta 2 Adrenergic Receptor ADRB2 CHAK00919 N/A -20 Kidney Int 1998 Jun;53(6):1455-1460 N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A T N/A C N/A GCTCGCGGCCCGCAGAGCCCCGCCGTGGGTCCGCCTGCTGAGGCGCCCCCAGCCAGTGCGC*TACCTGCCAGACTGCGCGCCATGGGGCAACCCGGGAACGGCAGCGCCTTCTTGCTGGC Beta 2 Adrenergic Receptor ADRB2 CHAK00920 N/A -20 Kidney Int 1998 Jun;53(6):1455-1460 N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A T N/A C N/A GCTCGCGGCCCGCAGAGCCCCGCCGTGGGTCCGCCTGCTGAGGCGCCCCCAGCCAGTGCGCT*ACCTGCCAGACTGCGCGCCATGGGGCAACCCGGGAACGGCAGCGCCTTCTTGCTGGC Beta 2 Adrenergic Receptor ADRB2 CHAK00921 N/A 46 Kidney Int 1998 Jun;53(6):1455-1460 N/A N/A Literature Search Coding Arg Gly Nonsynonymous 1 AGA GGA N/A A N/A G N/A GCTTACCTGCCAGACTGCGCGCCATGGGGCAACCCGGGAACGGCAGCGCCTTCTTGCTGGCACCCAAT*GAAGCCATGCGCCGGACCACGACGTCACGCAGCAAAGGGACGAGGTGTGGGTGGTGGGCAT Beta 2 Adrenergic Receptor ADRB2 CHAK00922 N/A 79 Kidney Int 1998 Jun;53(6):1455-1460 N/A N/A Literature Search Coding Gln Glu Synonymous 1 CAA GAA N/A C N/A G N/A GGGCAACCCGGGAACGGCAGCGCCTTCTTGCTGGCACCCAATGGAAGCCATGCGCCGGACCACGACGTCACGCAG*AAAGGGACGAGGTGTGGGTGGTGGGCATGGGCATCGTCATGTCTCTCATCGTCCTGGCCATCGTGTTTGGCAATG Beta 3 Adrenergic Receptor ADRB3 CHAK00042 1 44 Confirmed Likely N/A African 5' UTR N/A N/A N/A 0 N/A N/A X72861 A N/A G N/A TCCAATTCGGCTCCAGAGGCCCCTCCAGACTATAGGCAGCTGCCCCTTTAAGCGTCGCTACTCCTCCCCC*AGAGCGGTGGCACCGAGGGAGTTGGGGTGGGGGGAGGCTGAGCGCTCTGGCTGGGACAGCTAGAGAAGAT Beta 3 Adrenergic Receptor ADRB3 CHAK00043 1 416 Confirmed Likely Medium Both Coding Trp Arg Nonsynonymous 1 TGG CGG X72861 T 0.85 C 0.15 CGGGGCCCTGCTGGCGCTGGCGGTGCTGGCCACCGTGGGAGGCAACCTGCTGGTCATCGTGGCCATCGCC*GGACTCCGAGACTCCAGACCATGACCAACGTGTTCGTGACTTCGCTGGCCGCAGCCGACCTGGTGATGGG Beta 3 Adrenergic Receptor ADRB3 CHAK00044 1 1020 Confirmed Likely Rare African Coding Thr Met Nonsynonymous 2 ACG ATG X72861 C 0.95 T 0.05 CTGGGCCGCTTTCCGCCCGAGGAGTCTCCGCCGGCGCCGTCGCGCTCTCTGGCCCCGGCCCCGGTGGGGA*GTGCGCTCCGCCCGAAGGGGTGCCCGCCTGCGGCCGGCGGCCCGCGCGCCTCCTGCCTCTCCGGGAACAC Beta 3 Adrenergic Receptor ADRB3 CHAK00045 1 1354 Confirmed Likely Low African Coding Arg Arg Synonymous 3 CGC CGT X72861 C 0.9 T 0.1 GCAGCGCCTTCCGCCGTCTTCTGTGCCGCTGCGGCCGTCGCCTGCCTCCGGAGCCCTGCGCCGCCGCCCG*CCGGCCCTCTTCCCCTCGGGCGTTCCTGCGGCCCGGAGCAGCCCAGCGCAGCCCAGGCTTTGCCAACGGC Beta 3 Adrenergic Receptor ADRB3 CHAK00046 1 1445 Confirmed Likely Low U.S. White Intron N/A N/A N/A 0 N/A N/A X72861 G 0.9 T 0.1 CGTTCCTGCGGCCCGGAGCAGCCCAGCGCAGCCCAGGCTTTGCCAACGGCTCGACGGGTAGGTAACCGGG*CAGAGGGACCGGCGGCTCAGGGTCGGGAAGCATGCGATGTGTCCGTGGGTCAAC Beta 3 Adrenergic Receptor ADRB3 CHAK00047 2 301 Confirmed Likely Rare U.S. White 3' UTR N/A N/A N/A 0 N/A N/A X72861 G 0.95 C 0.05 CTCTCTGTCTGAGAGATGTTTTCTAAACCCCAGCCTTGAACTTCACTCCTCCCTCAGTGGTAGTGTCCAG*TGCCGTGGAGCAGCAGGCTGGCTTTGGTAGGGGCACCCATCACCCGGCTTGCCTGTGCAGTCAGTGAGTG Beta 3 Adrenergic Receptor ADRB3 CHAK00048 2 408 Confirmed Certain Medium African 3' UTR N/A N/A N/A 0 N/A N/A X72861 C 0.8 T 0.2 CCATCACCCGGCTTGCCTGTGCAGTCAGTGAGTGCTTAGGGCAAAGAGAGCTCCCCTGGTTCCATTCCTT*TGCCACCCAAACCCTGATGAGACCTTAGTGTTCTCCAGGCTCTGTGGCCCAGGCTGAGAGCAGCAGGGTA Angiotensinogen AGT CHAK00090 2 181 Confirmed Likely Rare U.S. White Coding Gln STOP Nonsynonymous 1 CAG TAG X15324 C 0.95 T 0.05 CCTGGCTGCAGGTGACCGGGTGTACATACACCCCTTCCACCTCGTCATCCACAATGAGAGTACCTGTGAG*AGCTGGCAAAGGCCAATGCCGGGAAGCCCAAAGACCCCACCTTCATACCTGCTCCAATTCAGGCCAAGAC Angiotensinogen AGT CHAK00091 2 354 Confirmed Likely Rare African Coding Ala Ala Synonymous 3 GCC GCT X15324 C 0.95 T 0.05 AGCTGGTGCTAGTCGCTGCAAAACTTGACACCGAAGACAAGTTGAGGGCCGCAATGGTCGGGATGCTGGC*AACTTCTTGGGCTTCCGTATATATGGCATGCACAGTGAGCTATGGGGCGTGGTCCATGGGGCCACCGTCC Angiotensinogen AGT CHAK00092 2 644 Confirmed Likely Low Both Coding Thr Met Nonsynonymous 2 ACG ATG X15324 C 0.9 T 0.1 CTGCAGGCTGTACAGGGCCTGCTAGTGGCCCAGGGCAGGGCTGATAGCCAGGCCCAGCTGCTGCTGTCCA*GGTGGTGGGCGTGTTCACAGCCCCAGGCCTGCACCTGAAGCAGCCGTTTGTGCAGGGCCTGGCTCTCTAT Angiotensinogen AGT CHAK00093 2 755 Confirmed Likely N/A African Coding Leu Arg Nonsynonymous 2 CTG CGG X15324 T N/A G N/A CAGCCGTTTGTGCAGGGCCTGGCTCTCTATACCCCTGTGGTCCTCCCACGCTCTCTGGACTTCACAGAAC*GGATGTTGCTGCTGAGAAGATTGACAGGTTCATGCAGGCTGTGACAGGATGGAAGACTGGCTGCTCCCTG Angiotensinogen AGT CHAK00094 2 827 Confirmed Likely Low African Coding Met Thr Nonsynonymous 2 ATG ACT X15324 T 0.1 C 0.9 GATGTTGCTGCTGAGAAGATTGACAGGTTCATGCAGGCTGTGACAGGATGGAAGACTGGCTGCTCCCTGA*GGGAGCCAGTGTGGACAGCACCCTGGCTTTCAACACCTACGTCCACTTCCAAGGTAAGGCAAACCTCTCT Angiotensinogen AGT CHAK00095 5 258 Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A M24689 C 0.95 T 0.05 CCGCGTGGCCAACCCGCTGAGCACAGCATGAGGCCAGGGCCCCAGAACACAGTGCCTGGCAAGGCCTCTG*CCCTGGCCTTTGAGGCAAAGGCCAGCAGCAGATAACAACCCCGGACAAATCAGCGATGTGTCACCCCCAG Angiotensinogen AGT CHAK00096 5 376 Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A M24689 C 0.95 G 0.05 AATCAGCGATGTGTCACCCCCAGTCTCCCACCTTTTCTTCTAATGAGTCGACTTTGAGCTGGAAAGCAGC*GTTTCTCCTTGGTCTAAGTGTGCTGCATGGAGTGAGCAGTAGAAGCCTGCAGCGGCACAAATGCACCTCC Angiotensinogen AGT CHAK00097 5 385 Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A M24689 T 0.95 C 0.05 TGTGTCACCCCCAGTCTCCCACCTTTTCTTCTAATGAGTCGACTTTGAGCTGGAAAGCAGCCGTTTCTCC*TGGTCTAAGTGTGCTGCATGGAGTGAGCAGTAGAAGCCTGCAGCGGCACAAATGCACCTCCCAGTTTGCT Angiotensinogen AGT CHAK00098 5 641 Confirmed Likely Low African 3' UTR N/A N/A N/A 0 N/A N/A M24689 T 0.9 G 0.1 TTTTCAAGTTGAGAACAAAAATTGGGTTTTAAAATTAAAGTATACATTTTTGCATTGCCTTCGGTTTGTA*TTAGTGTCTTGAATGTAAGAACATGACCTCCGTGTAGTGTCTGTAATACCTTAGTTTTTTCCACAGATGC Angiotensinogen AGT CHAK00099 Promoter 101 Confirmed Likely Rare African Promoter N/A N/A N/A 0 N/A N/A X15323 G 0.95 C 0.05 AACAGCACATCTTTCAATGCCTGCATCCTGAAGGCATTTTGTTTGTGTCTTTCAATCTGGCTGTGCTATT*TTGGTGTTTAACAGTCTCCCCAGCTACACTGGAAACTTCCAGAAGGCACTTTTCACTTGCTTGTGTGTTT Angiotensinogen AGT CHAK00100 Promoter 173 Confirmed Certain Medium Both Promoter N/A N/A N/A 0 N/A N/A X15323 C 0.75 T 0.25 TGGTGTTTAACAGTCTCCCCAGCTACACTGGAAACTTCCAGAAGGCACTTTTCACTTGCTTGTGTGTTTT*CCCAGTGTCTATTAGAGGCCTTTGCACAGGGTAGGCTCTTTGGAGCAGCTGAAGGTCACACATCCCATGA Angiotensinogen AGT CHAK00101 Promoter 35 Confirmed Likely Rare U.S. White Promoter N/A N/A N/A 0 N/A N/A X15323 G 0.95 A 0.05 AGCAGGGTCAGAAGTGGCCCCCGTGTTGCCTAAGCAAGACTCTCCCCTGCCCTCTGCCCTCTGCACCTCC*GCCTGCATGTCCCTGTGGCCTCTTGGGGGTACATCTCCCGGGGCTGGGTCAGAAGGCCTGGGTGGTTGGC Angiotensinogen AGT CHAK00102 Promoter 160 Confirmed Likely Rare U.S. White Promoter N/A N/A N/A 0 N/A N/A X15323 G 0.95 A 0.05 GGCCTGGGTGGTTGGCCTCAGGCTGTCACACACCTAGGGAGATGCTCCCGTTTCTGGGAACCTTGGCCCC*ACTCCTGCAAACTTCGGTAAATGTGTAACTCGACCCTGCACCGGCTCACTCTGTTCAGCAGTGAAACTCT Angiotensinogen AGT CHAK00103 Promoter 203 Confirmed Certain Medium Both Promoter N/A N/A N/A 0 N/A N/A X15323 G 0.85 A 0.15 GCTCCCGTTTCTGGGAACCTTGGCCCCGACTCCTGCAAACTTCGGTAAATGTGTAACTCGACCCTGCACC*GCTCACTCTGTTCAGCAGTGAAACTCTGCATCGATCACTAAGACTTCCTGGAAGAGGTCCCAGCGTGAGT Angiotensinogen AGT CHAK00104 Promoter 144 Confirmed Certain Medium Both Promoter N/A N/A N/A 0 N/A N/A X15323 C 0.2 A 0.8 CCTCCTCTCCAGCCTGTGCACAGGCAGCCTGGGAACAGCTCCATCCCCACCCCTCAGCTATAAATAGGGC*TCGTGACCCGGCCAGGGGAAGAAGCTGCCGTTGTTCTGGGTACTACAGCAGAAGGTAAGCCGGGGGCCCC Angiotensinogen AGT CHAK00105 Promoter 158 Confirmed Likely High U.S. White Promoter N/A N/A N/A 0 N/A N/A X15323 A 0.7 G 0.3 TGTGCACAGGCAGCCTGGGAACAGCTCCATCCCCACCCCTCAGCTATAAATAGGGCCTCGTGACCCGGCC*GGGGAAGAAGCTGCCGTTGTTCTGGGTACTACAGCAGAAGGTAAGCCGGGGGCCCCCTCA Angiotensinogen AGT CHAK00106 Promoter 173 Confirmed Likely Rare U.S. White Promoter N/A N/A N/A 0 N/A N/A X15323 C 0.95 T 0.05 TGGGAACAGCTCCATCCCCACCCCTCAGCTATAAATAGGGCCTCGTGACCCGGCCAGGGGAAGAAGCTGC*GTTGTTCTGGGTACTACAGCAGAAGGTAAGCCGGGGGCCCCCTCA Angiontensin II Receptor 1 AGTR1 CHAK00241 5 649 Confirmed Likely High Both Coding Leu Leu Synonymous 3 CTT CTC "S80194, Z11162" T 0.35 C 0.65 ATGTATTTTTCATTGAGAACACCAATATTACAGTTTGTGCTTTCCATTATGAGTCCCAAAATTCAACCCT*CCGATAGGGCTGGGCCTGACCAAAAATATACTGGGTTTCCTGTTTCCTTTTCTGATCATTCTTACAAGTT Angiontensin II Receptor 1 AGTR1 CHAK00242 5 1138 Confirmed Likely Medium Both Coding Pro Pro Synonymous 3 CCA CCG "S80194, Z11162" A 0.75 G 0.25 CAACAAAAATGAGCACGCTTTCCTACCGCCCCTCAGATAATGTAAGCTCATCCACCAAGAAGCCTGCACC*TGTTTTGAGGTTGAGTGACATGTTCGAAACCTGTCCATAAAGTAATTTTGTGAAAGAAGGAGCAAGAGAA Angiontensin II Receptor 1 AGTR1 CHAK00243 5 1158 Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A "S80194, Z11162" A 0.95 G 0.05 TCCTACCGCCCCTCAGATAATGTAAGCTCATCCACCAAGAAGCCTGCACCATGTTTTGAGGTTGAGTGAC*TGTTCGAAACCTGTCCATAAAGTAATTTTGTGAAAGAAGGAGCAAGAGAACATTCCTCTGCAGCACTTCA Angiontensin II Receptor 1 AGTR1 CHAK00244 5 1226 Confirmed Likely Low African 3' UTR N/A N/A N/A 0 N/A N/A "S80194, Z11162" T 0.9 G 0.1 ACATGTTCGAAACCTGTCCATAAAGTAATTTTGTGAAAGAAGGAGCAAGAGAACATTCCTCTGCAGCACT*CACTACCAAATGAGCATTAGCTACTTTTCAGAATTGAAGGAGAAAATGCATTATGTGGACTGAACCGACT Angiontensin II Receptor 1 AGTR1 CHAK00245 5 1242 Confirmed Certain High U.S. White 3' UTR N/A N/A N/A 0 N/A N/A "S80194, Z11162" A 0.5 C 0.5 TCCATAAAGTAATTTTGTGAAAGAAGGAGCAAGAGAACATTCCTCTGCAGCACTTCACTACCAAATGAGC*TTAGCTACTTTTCAGAATTGAAGGAGAAAATGCATTATGTGGACTGAACCGACTTTTCTAAAGCTCTGAA Angiontensin II Receptor 1 AGTR1 CHAK00246 5 1249 Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A "S80194, Z11162" A 0.95 G 0.05 AGTAATTTTGTGAAAGAAGGAGCAAGAGAACATTCCTCTGCAGCACTTCACTACCAAATGAGCATTAGCT*CTTTTCAGAATTGAAGGAGAAAATGCATTATGTGGACTGAACCGACTTTTCTAAAGCTCTGAACAAAAGC Angiontensin II Receptor 1 AGTR1 CHAK00247 5 1473 Confirmed Certain Low African 3' UTR N/A N/A N/A 0 N/A N/A "S80194, Z11162" G 0.9 A 0.1 ACTCGATGAATGTGTTGATTTGAGAAATTTTACTGACAGAAATGCAATCTCCCTAGCCTGCTTTTGTCCT*TTATTTTTTATTTCCACATAAAGGTATTTAGAATATATTAAATCGTTAGAGGAGCAACAGGAGATGAGAG Angiontensin II Receptor 1 AGTR1 CHAK00248 5 1593 Confirmed Certain Medium African 3' UTR N/A N/A N/A 0 N/A N/A "S80194, Z11162" G 0.9 T 0.1 AGGAGCAACAGGAGATGAGAGTTCCAGATTGTTCTGTCCAGTTTCCAAAGGGCAGTAAAGTTTTCGTGCC*GTTTTCAGCTATTAGCAACTGCTGCTACACTTGCACCTGGTACTGCACATTTTGTACAAAGATATGCTAA Angiontensin II Receptor 2 AGTR2 CHAK00249 3 562 Confirmed Likely Rare African Coding Leu Leu Synonymous 3 CTT CTC U20860 T 0.95 C 0.05 ACCAATCTGTCATCTACCCCTTTCTGTCTCAAAGAAGAAATCCCTGGCAAGCATCTTATATAGTTCCCCT*GTTTGGTGTATGGCCTGTTTGTCCTCATTGCCAACATTTTATTTTCGAGACGTCAGAACCATTGAATACT Angiontensin II Receptor 2 AGTR2 CHAK00250 3 807 Confirmed Likely Low African Coding Arg Lys Nonsynonymous 2 AGG AAG U20860 G 0.95 A 0.05 ATATTCATAGCAACATGCTATTTTGGAATTAGAAAACACTTACTGAAGACGAATAGCTATGGGAAGAACA*GATAACCCGTGACCAAGTCCTGAAGATGGCAGCTGCTGTTGTTCTGGCCTTCATCATTTGCTGGCTTCCC Angiontensin II Receptor 2 AGTR2 CHAK00251 3 844 Confirmed Likely Low U.S. White Coding Ala Ala Synonymous 3 GCT GCC U20860 T 0.9 C 0.1 ACTTACTGAAGACGAATAGCTATGGGAAGAACAGGATAACCCGTGACCAAGTCCTGAAGATGGCAGCTGC*GTTGTTCTGGCCTTCATCATTTGCTGGCTTCCCTTCCATGTTCTGACCTTCCTGGATGCTCTGGCCTGGA Angiontensin II Receptor 2 AGTR2 CHAK00252 3 1355 Confirmed Likely High U.S. White 3' UTR N/A N/A N/A 0 N/A N/A U20860 T 0.4 G 0.6 TAACTATGTTTTATCGTCCAGTGACTTTCAGGAATTGCCCATTGTTTTTCTGATATGTTTGTACAAGATT*TCATTGGTGAGACATATTTACAACCTAGAAGTAACTGGTGATATATCTCAAATTGTAATTAATAATAGAT Angiontensin II Receptor 2 AGTR2 CHAK00253 3 1361 Confirmed Likely High U.S. White 3' UTR N/A N/A N/A 0 N/A N/A U20860 G 0.7 A 0.3 TGTTTTATCGTCCAGTGACTTTCAGGAATTGCCCATTGTTTTTCTGATATGTTTGTACAAGATTTTCATT*GTGAGACATATTTACAACCTAGAAGTAACTGGTGATATATCTCAAATTGTAATTAATAATAGATTGTGAA Aldehyde Reductase ALDR1 CHAK00107 1 71 Confirmed Certain High African Promoter N/A N/A N/A 0 N/A N/A M59856 C 0.35 G 0.65 GCGCGCCAACCGCAGGCGCCCTTTCTGCCGACCTCACGGGCTATTTAAAGGTACGCGCCG*GGCCAAGGCCGCACCGTACTGGGCGGGGGTCTGGGGAGCGCAGCAGCCATGGCAAGCCGT Aldehyde Reductase ALDR1 CHAK00108 1 162 Confirmed Likely Medium U.S. White Coding Ile Phe Nonsynonymous 1 ATC TTC M59856 A 0.9 T 0.1 CTGGGGAGCGCAGCAGCCATGGCAAGCCGTCTCCTGCTCAACAACGGCGCCAAGATGCCC*TCCTGGGGTTGGGTACCTGGAAGGTAGGTGCTCGTGGGGGCGCGGGCCCGGGGCTCGCCT Aldehyde Reductase ALDR1 CHAK00109 10 150 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A M59783 T 0.95 G 0.05 CGTCCCCAAGTGACCTATACCTGTGTTTCTTGCCTCATTTTTTTCCTTGCAAATGTAGTA*GGCCTGTGTCACTCAGCAGTGGGACAGCAACCTGTAGAGTGGCCAGCGAGGGCGTGTCTA Aldehyde Reductase ALDR1 CHAK00110 2 88 Not Confirmed Likely Rare African Coding His Leu Nonsynonymous 2 CAC CTC M59783 A 0.95 T 0.05 AGTCCCCTCCAGGGCAGGTGACTGAGGCCGTGAAGGTGGCCATTGACGTCGGGTACCGCC*CATCGACTGTGCCCATGTGTACCAGAATGAGAATGAGGTGGGGGTGGCCATTCAGGAGAA Aldehyde Reductase ALDR1 CHAK00111 2 180 Not Confirmed Likely Rare U.S. White Coding Leu Val Nonsynonymous 1 CTC GTC M59783 C 0.95 G 0.05 AATGAGGTGGGGGTGGCCATTCAGGAGAAGCTCAGGGAGCAGGTGGTGAAGCGTGAGGAG*TCTTCATCGTCAGCAAGGTATCGTTCCGCGGTGGGGCTGGAAGGGGCTCTCGGTCCCATC Aldehyde Reductase ALDR1 CHAK00112 2 204 Not Confirmed Likely Rare U.S. White Intron N/A N/A N/A 0 N/A N/A M59783 T 0.95 G 0.05 GAGAAGCTCAGGGAGCAGGTGGTGAAGCGTGAGGAGCTCTTCATCGTCAGCAAGGTATCG*TCCGCGGTGGGGCTGGAAGGGGCTCTCGGTCCCATCATCTGTTGGTGCATCAGCCCAAAG Aldehyde Reductase ALDR1 CHAK00113 3 28 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A M59783 A 0.95 T 0.05 TTTCCAGCCAGGAAGCTGCCTTGTGGCTGGCAATGATGACATGTGCCCTCTCGCTGGCTT*GCTGTGGTGCACGTACCATGAGAAGGGCCTGGTGAAAGGAGCCTGCCAGAAGACACTCAG Aldehyde Reductase ALDR1 CHAK00114 4 101 Not Confirmed Likely Rare African Coding Thr Thr Synonymous 3 ACG ACA M59783 G 0.95 A 0.05 ATTTTTCCCATTGGATGAGTCGGGCAATGTGGTTCCCAGTGACACCAACATTCTGGACAC*TGGGCGGTAAGACAGCCCCTGGTTGGACCTTGTTTTCGTGACTGGTTCCCTCTTCTTCTT Aldehyde Reductase ALDR1 CHAK00115 6 87 Not Confirmed Likely Rare U.S. White Coding Gly Ser Nonsynonymous 1 GGC AGC M59783 G 0.95 A 0.05 CAGATTGAGTGCCACCCATATCTCACTCAGGAGAAGTTAATCCAGTACTGCCAGTCCAAA*GCATCGTGGTGACCGCCTACAGCCCCCTCGGCTCTCCTGACAGGCCCTGGTGAGCTTCCC Aldehyde Reductase ALDR1 CHAK00116 9 67 Not Confirmed Likely Rare African Coding Thr Ile Nonsynonymous 2 ACC ATC M59783 C 0.95 T 0.05 TGGATTTTTTGTTTGTTTTTTAGGTCTTTGACTTTGAACTGAGCAGCCAGGATATGACCA*CTTACTCAGCTACAACAGGAACTGGAGGGTCTGTGCCTTGTTGAGGTGAGTGAGCCCCAG Apolipoprotein A1 APOA1 CHAK00123 N/A 101 Confirmed Certain Medium African Promoter N/A N/A N/A 0 N/A N/A J00098 C 0.75 T 0.25 TCCTGCTGCCTGCCCCGGCACTCTGGCTCCCCAGCTCAAGGTTCAGGCCTTGCCCCAGGC*GGGCCTCTGGGTACCTGAGGTCTTCTCCCGCTCTGTGCCCTTCTCCTCACCTGGCTGCAA Apolipoprotein A1 APOA1 CHAK00124 N/A 334 Not Confirmed Likely High U.S. White Intron N/A N/A N/A 0 N/A N/A J00098 T 0.7 C 0.3 TGGCCGTGCTCTTCCTGACGGGTAGGTGTCCCCTAACCTAGGAGCCAACCATCGGGGGGC*TTCTCCCTAAATCCCCGTGGCCCACCCTCCTGGGCAGAGGCAGCAGGTTTCTCACTGGCC Apolipoprotein A1 APOA1 CHAK00125 N/A 620 Not Confirmed Likely Medium U.S. White Coding Ala Ala Synonymous 3 GCC GCT J00098 C 0.85 T 0.15 GTACGTGGATGTGCTCAAAGACAGCGGCAGAGACTATGTGTCCCAGTTTGAAGGCTCCGC*TTGGGAAAACAGCTAAAGTAAGGACCCAGCCTGGGGTTGAGGGCAGGGGCAGGGGGCAGA Apolipoprotein A1 APOA1 CHAK00126 N/A 771 Not Confirmed Likely Rare U.S. White Intron N/A N/A N/A 0 N/A N/A J00098 C 0.95 T 0.05 GCCGAGTCCTCACCTAATATCTGATGAGCTGGGCCCCACAGATGGTCTGGATGGAGAAAC*GGAATGGATCTCCAGGCAGGGTCACAGCCCATGTCCCCTGCAAAGGACAGACCAGGGCTG Apolipoprotein A1 APOA1 CHAK00127 N/A 840 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A J00098 G 0.95 A 0.05 TCTCCAGGCAGGGTCACAGCCCATGTCCCCTGCAAAGGACAGACCAGGGCTGCCCGATGC*TGATCACAGAGCCACATTGTGCCTGCAAGTGTAGCAAGCCCCTTTCCCTTCTTCACCACC Apolipoprotein A1 APOA1 CHAK00128 N/A 1016 Not Confirmed Likely Medium U.S. White Intron N/A N/A N/A 0 N/A N/A J00098 A 0.75 C 0.25 GGAGGCATAGAAGCGAGGTCCTTCAAGGGCCCACTTTGGAGACCAACGTAACTGGGCACC*GTCCCAGCTCTGTCTCCTTTTTAGCTCCTCTCTGTGCCTCGGTCCAGCTGCACAACGGGG Apolipoprotein A1 APOA1 CHAK00129 N/A 1162 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A J00098 G 0.95 C 0.05 GGTTGAGAGTGTACTGGAAATGCTAGGCCACTGCACCTCCGCGGACAGGTGTCACCCAGG*CTCACCCCTGATAGGCTGGGGCGCTGGGAGGCCAGCCCTCAACCCTTCTGTCTCACCCTC Apolipoprotein A1 APOA1 CHAK00130 N/A 1163 Not Confirmed Certain Rare African Intron N/A N/A N/A 0 N/A N/A J00098 C 0.95 T 0.05 GTTGAGAGTGTACTGGAAATGCTAGGCCACTGCACCTCCGCGGACAGGTGTCACCCAGGG*TCACCCCTGATAGGCTGGGGCGCTGGGAGGCCAGCCCTCAACCCTTCTGTCTCACCCTCC Apolipoprotein A1 APOA1 CHAK00131 N/A 1401 Not Confirmed Likely Rare African Coding Asp His Nonsynonymous 1 GAC CAC J00098 G 0.95 C 0.05 CTGAGGCAAGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTG*ACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGC Apolipoprotein A1 APOA1 CHAK00132 N/A 1576 Not Confirmed Likely Rare U.S. White Coding Arg Pro Nonsynonymous 2 CGC CCC J00098 G 0.95 C 0.05 AGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGC*CACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGC Apolipoprotein A1 APOA1 CHAK00133 N/A 1643 Not Confirmed Likely Rare U.S. White Coding Lys Lys Synonymous 3 AAG AAA J00098 G 0.95 A 0.05 TCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAA*GAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACG Apolipoprotein A1 APOA1 CHAK00134 N/A 1757 Not Confirmed Likely Low African Coding Pro Pro Synonymous 3 CCC CCG J00098 C 0.95 G 0.05 GAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCC*GTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTC Apolipoprotein A1 APOA1 CHAK00135 N/A 2007 Not Confirmed Likely High African 3' UTR N/A N/A N/A 0 N/A N/A J00098 T 0.65 A 0.35 GGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGAC*GGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCNTGGCTGCTTACGAG Apolipoprotein A2 APOA2 CHAK00136 N/A 249 Confirmed Certain High Both Promoter N/A N/A N/A 0 N/A N/A X02905 T 0.7 C 0.3 CATGGGTTGATATGTCAGAGCTTTCCAGAGAAATAACTTGGAATCCTGCTTCCTGTTGCA*TCAAGTCCAAGGACCTCAGATCTAAAAGAATGAACCTCAAATATACCTGAAGTGTACCCC Apolipoprotein A2 APOA2 CHAK00137 N/A 547 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A X02905 A 0.95 C 0.05 AGCCCCTTCCTCTCCAGCCAGGGCAGGCACAGACACCAAGGACAGAGACGCTGGCTAGGT*AGATAAGGAGGCAAGATGTGTGAGCAGCATCCAAAGAGGCCTGGGCTTCAGTTGTGGAGA Apolipoprotein A2 APOA2 CHAK00138 N/A 1334 Not Confirmed Likely Rare Both Intron N/A N/A N/A 0 N/A N/A X02905 T 0.95 A 0.05 ATGAGAGGTCCCACAGAAGTCTGAACCCAGGGGTGGGGATTAGGGCAGATTAGGCTTAAA*TGCAGAGAAAAAGTATTTCATCACCCAAAGATCCCACACGTCTCTTAGATAGAGAGGAAC Apolipoprotein A2 APOA2 CHAK00139 N/A 1412 Not Confirmed Certain Medium Both Intron N/A N/A N/A 0 N/A N/A X02905 G 0.85 C 0.15 TCATCACCCAAAGATCCCACACGTCTCTTAGATAGAGAGGAACAGCAAGAACTGGGCCTT*AATTTCAGTCTCTAGAGTCTGTCCCTCTACCTAGCAAAGGTCTTGACTCTATTCCTACCT Apolipoprotein A2 APOA2 CHAK00140 N/A 1414 Not Confirmed Likely Rare U.S. White Intron N/A N/A N/A 0 N/A N/A X02905 A 0.95 T 0.05 ATCACCCAAAGATCCCACACGTCTCTTAGATAGAGAGGAACAGCAAGAACTGGGCCTTGA*TTTCAGTCTCTAGAGTCTGTCCCTCTACCTAGCAAAGGTCTTGACTCTATTCCTACCTAG Apolipoprotein A2 APOA2 CHAK00141 N/A 1459 Not Confirmed Likely Rare U.S. White Intron N/A N/A N/A 0 N/A N/A X02905 C 0.95 T 0.05 AGAACTGGGCCTTGAATTTCAGTCTCTAGAGTCTGTCCCTCTACCTAGCAAAGGTCTTGA*TCTATTCCTACCTAGGGGCTTTGCCATGCGATGGACCAGGCACTAGAGTTTGGGGACCTG Apolipoprotein A2 APOA2 CHAK00142 N/A 1672 Not Confirmed Likely Low African Coding Leu Leu Synonymous 1 CTG TTG X02905 C 0.95 T 0.05 TCTTACTTTGAAAAGTCAAAGGAGCAGCTGACACCCCTGATCAAGAAGGCTGGAACGGAA*TGGTTAACTTCTTGAGCTATTTCGTGGAACTTGGAACACAGCCTGCCACCCAGTGAAGTG Apolipoprotein A4 APOA4 CHAK00143 N/A 350 Not Confirmed Likely Low African Promoter N/A N/A N/A 0 N/A N/A J02758 G 0.9 A 0.1 GATGTGGACTTTGCCCCCCATGAGCCCGGCACAAACCCGAGAGGCCGCCAGCAGGGCCTC*AGGCATCAGTCCCGGGCTCATGGGCTCCCTGAGGTGTTTCTCCTACTGTTTTCCGTTCCC Apolipoprotein A4 APOA4 CHAK00144 N/A 637 Not Confirmed Likely Rare U.S. White Promoter N/A N/A N/A 0 N/A N/A J02758 G 0.95 C 0.05 CGTGGAGTCACACTGAGGAAGGAGGAGGGGAGGGCAGCCAGGGGGGTGGCGATAGGGAGA*AGTTTAAATGTCTGGCTGGCTCTGAGCTTCAGTCAGTTCCCACTGCAGCGCAGGTGAGCT Apolipoprotein A4 APOA4 CHAK00145 N/A 687 Not Confirmed Likely Rare African Promoter N/A N/A N/A 0 N/A N/A J02758 G 0.95 A 0.05 GATAGGGAGAGAGTTTAAATGTCTGGCTGGCTCTGAGCTTCAGTCAGTTCCCACTGCAGC*CAGGTGAGCTCTCCTGAGGACCTCTCTGTCAGCTCCCCTGATTGTAGGGAGGATCCAGTG Apolipoprotein A4 APOA4 CHAK00146 N/A 1228 Not Confirmed Likely High Both Coding Thr Thr Synonymous 3 ACA ACG J02758 A 0.65 G 0.35 AATTGCTCTCTGTTACCACCCAGGAGCCAGGGCTGAGGTCAGTGCTGACCAGGTGGCCAC*GTGATGTGGGACTACTTCAGCCAGCTGAGCAACAATGCCAAGGAGGCCGTGGAACATCTC Apolipoprotein A4 APOA4 CHAK00147 N/A 1338 Not Confirmed Certain Rare U.S. White Intron N/A N/A N/A 0 N/A N/A J02758 T 0.05 C 0.95 TGGAACATCTCCAGAAATCTGAACTCACCCAGCAACTCAAGTAAGAGGGACTACAGTGTG*GGTGGTGACGGGGAATTCTTAAAGGCCATGCAATGTACTGGCAAGGGTTGAGCTTAGAGA Apolipoprotein A4 APOA4 CHAK00148 N/A 1479 Not Confirmed Certain Rare African Intron N/A N/A N/A 0 N/A N/A J02758 C 0.95 T 0.05 TACCCACTGCCCTGCCACTAACTGGCCGGGCCTCTGAACCTAGGATCCACATATGTAAAC*GGAAGTTTGGACCGAATAATCCCTGCCATGTCCTTTTGCTTTGACGTTCTAGAGTTTGAC Apolipoprotein A4 APOA4 CHAK00149 N/A 1529 Not Confirmed Likely Low Both Intron N/A N/A N/A 0 N/A N/A J02758 T 0.9 C 0.1 ATATGTAAACCGGAAGTTTGGACCGAATAATCCCTGCCATGTCCTTTTGCTTTGACGTTC*AGAGTTTGACAAATGGCCACATCCTATCATTCAGGCTCATGGAAGAGAGGGAGGGAGGAA Apolipoprotein A4 APOA4 CHAK00150 N/A 1597 Not Confirmed Certain High African Intron N/A N/A N/A 0 N/A N/A J02758 T 0.65 C 0.35 GACAAATGGCCACATCCTATCATTCAGGCTCATGGAAGAGAGGGAGGGAGGAAAATGTCA*GTGAGCTGATTTCTAATACGTTTCAGAAAGACAGGCCCCAGTGGAATCAAGGGGAGGGAG Apolipoprotein A4 APOA4 CHAK00151 N/A 1617 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A J02758 G 0.95 A 0.05 CATTCAGGCTCATGGAAGAGAGGGAGGGAGGAAAATGTCATGTGAGCTGATTTCTAATAC*TTTCAGAAAGACAGGCCCCAGTGGAATCAAGGGGAGGGAGGTGGGAATATTTGGGAGGCC Apolipoprotein A4 APOA4 CHAK00152 N/A 1879 Not Confirmed Likely Low African Intron N/A N/A N/A 0 N/A N/A J02758 C 0.95 G 0.05 CAGACAAGGAGGGGAAAGCAAACTGCTGGAGGTGACATGGTGGGTAGATTCTGAGACAAA*TATGTGGGAGATCCTGAGATAGAAATTCAGCATCGTAACTTAGTCTGTGACACCCATCCT Apolipoprotein A4 APOA4 CHAK00153 N/A 1961 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A J02758 G 0.95 A 0.05 GAAATTCAGCATCGTAACTTAGTCTGTGACACCCATCCTCTCCAATCTGCACCACCATAG*GAGGGTGAACTCGGTACCTCTGAGCACTCACCTGTCTTAGCACGTGTGCATAAGGCGAGT Apolipoprotein A4 APOA4 CHAK00154 N/A 1998 Not Confirmed Likely High Both Intron N/A N/A N/A 0 N/A N/A J02758 T 0.65 C 0.35 CTCTCCAATCTGCACCACCATAGGGAGGGTGAACTCGGTACCTCTGAGCACTCACCTGTC*TAGCACGTGTGCATAAGGCGAGTGGTATACAAGCAGACAAAGTCTTGCCGTGTAAATGCC Apolipoprotein A4 APOA4 CHAK00155 N/A 2134 Not Confirmed Certain High African Coding Tyr Tyr Synonymous 3 TAC TAT J02758 C 0.7 T 0.3 TCCTTGTGCCCTTCCCCACAGTGCCCTCTTCCAGGACAAACTTGGAGAAGTGAACACTTA*GCAGGTGACCTGCAGAAGAAGCTGGTGCCCTTTGCCACCGAGCTGCATGAACGCCTGGCC Apolipoprotein A4 APOA4 CHAK00156 N/A 2138 Not Confirmed Likely Rare African Coding Gly Ser Nonsynonymous 1 GGT AGT J02758 G 0.95 A 0.05 TGTGCCCTTCCCCACAGTGCCCTCTTCCAGGACAAACTTGGAGAAGTGAACACTTACGCA*GTGACCTGCAGAAGAAGCTGGTGCCCTTTGCCACCGAGCTGCATGAACGCCTGGCCAAGG Apolipoprotein A4 APOA4 CHAK00157 N/A 2140 Not Confirmed Likely Rare U.S. White Coding Gly Gly Synonymous 3 GGT GGC J02758 T 0.95 C 0.05 TGCCCTTCCCCACAGTGCCCTCTTCCAGGACAAACTTGGAGAAGTGAACACTTACGCAGG*GACCTGCAGAAGAAGCTGGTGCCCTTTGCCACCGAGCTGCATGAACGCCTGGCCAAGGAC Apolipoprotein A4 APOA4 CHAK00158 N/A 2358 Not Confirmed Likely Medium Both Coding Asn Ser Nonsynonymous 2 AAC AGC J02758 A 0.85 G 0.15 ACCTGCGAGAGCTTCAGCAGCGCCTGGAGCCCTACGCGGACCAGCTGCGCACCCAGGTCA*CACGCAGGCCGAGCAGCTGCGGCGCCAGCTGACCCCCTACGCACAGCGCATGGAGAGAGT Apolipoprotein A4 APOA4 CHAK00159 N/A 2698 Not Confirmed Likely Low African Coding Ala Ala Synonymous 3 GCC GCT J02758 C 0.95 T 0.05 CCTGACCTTCCAGATGAAGAAGAACGCCGAGGAGCTCAAGGCCAGGATCTCGGCCAGTGC*GAGGAGCTGCGGCAGAGGCTGGCGCCCTTGGCCGAGGACGTGCGTGGCAACCTGAGGGGC Apolipoprotein A4 APOA4 CHAK00160 N/A 2764 Not Confirmed Likely Low African Coding Thr Thr Synonymous 3 ACC ACT J02758 C 0.9 T 0.1 GCTGCGGCAGAGGCTGGCGCCCTTGGCCGAGGACGTGCGTGGCAACCTGAGGGGCAACAC*GAGGGGCTGCAGAAGTCACTGGCAGAGCTGGGTGGGCACCTGGACCAGCAGGTGGAGGAG Apolipoprotein A4 APOA4 CHAK00161 N/A 2806 Not Confirmed Likely Rare African Coding Leu Leu Synonymous 3 CTG CTA J02758 G 0.95 A 0.05 CAACCTGAGGGGCAACACCGAGGGGCTGCAGAAGTCACTGGCAGAGCTGGGTGGGCACCT*GACCAGCAGGTGGAGGAGTTCCGACGCCGGGTGGAGCCCTACGGGGAAAACTTCAACAAA Apolipoprotein A4 APOA4 CHAK00162 N/A 2837 Not Confirmed Likely Rare African Coding Val Leu Nonsynonymous 1 GTG CTG J02758 G 0.95 C 0.05 AAGTCACTGGCAGAGCTGGGTGGGCACCTGGACCAGCAGGTGGAGGAGTTCCGACGCCGG*TGGAGCCCTACGGGGAAAACTTCAACAAAGCCCTGGTGCAGCAGATGGAACAGCTCAGGA Apolipoprotein A4 APOA4 CHAK00163 N/A 2926 Not Confirmed Certain Medium African Coding Val Val Synonymous 3 GTG GTT J02758 G 0.85 T 0.15 AGCCCTGGTGCAGCAGATGGAACAGCTCAGGACGAAACTGGGCCCCCATGCGGGGGACGT*GAAGGCCACTTGAGCTTCCTGGAGAAGGACCTGAGGGACAAGGTCAACTCCTTCTTCAGC Apolipoprotein A4 APOA4 CHAK00164 N/A 3058 Confirmed Certain Medium U.S. White Coding His Gln Nonsynonymous 3 CAT CAG J02758 T 0.2 G 0.8 GAAAGAGAGCCAGGACAAGACTCTCTCCCTCCCTGAGCTGGAGCAACAGCAGGAACAGCA*CAGGAGCAGCAGCAGGAGCAGGTGCAGATGCTGGCCCCTTTGGAGAGCTGAGCTGCCCCT Apolipoprotein B APOB CHAK00928 N/A 7545 Ann Hum Genet 1997 Nov;61 ( Pt 6):525-9 N/A N/A Literature Search Coding Thr Thr Synonymous 3 ACT ACC N/A T N/A C N/A GTTACAGGAGGCTTTAAGTTCAGCATCTTTGGCTCACATGAAGGCCAAATTCCGAGAGAC*CTAGAAGATACACGAGACCGAATGTATCAAATGGACATTCAGCAGGAACTTCAACGATAC Apolipoprotein B APOB CHAK00929 N/A 10914 Ann Hum Genet 1997 Nov;61 ( Pt 6):525-9 N/A N/A Literature Search Coding Arg Gln Nonsynonymous 2 CAG CGG N/A A N/A G N/A CAGGTCCATGCAAGTCAGCCCAGTTCCTTCCATGATTTCCCTGACCTTGGCCAGGAAGTGGCCCTGAATGCTAACACTAAGAACCAGAAGATCAGATGGAAAAATGAAGTCC*GATTCATTCTGGGTCTTTCCAGAGCCAGGTCGAGCTTTCCAATGACCAAGAAAAGGCACACCTTGAC Apolipoprotein B APOB CHAK00930 N/A 12543 Ann Hum Genet 1997 Nov;61 ( Pt 6):525-9 N/A N/A Literature Search Coding Lys Gln Nonsynonymous 1 AAA CAA N/A A N/A C N/A CAAGCCAGTTTCCAGGGACTCAAGGATAACGTGTTTGATGGCTTGGTACGAGTTACTCAA*AATTCCATATGAAAGTCAAGAAGCTGATTGACTCACTCATTGATTTTCTGAACTTCCCCAGATTCCAGTTTCCGGGGAAACCTGGGATATACACTA Apolipoprotein C1 APOC1 CHAK00165 1 432 Not Confirmed Likely Rare U.S. White Coding Ser Ser Synonymous 3 TCG TCA J03217 G 0.95 A 0.05 TGAACCCCTGCCTCTGCCTCCAGAGTGCCCCTCCGGCCTCGCCATGAGGCTCTTCCTGTC*CTCCCGGTCCTGGTGGTGGTTCTGTCGATCGTCTTGGAAGGTAAAAGTGGGATGGGAGAA Apolipoprotein C1 APOC1 CHAK00166 1 462 Confirmed Likely High Both Coding Ile Met Nonsynonymous 3 ATC ATG J03217 C 0.6 G 0.4 CTCCGGCCTCGCCATGAGGCTCTTCCTGTCGCTCCCGGTCCTGGTGGTGGTTCTGTCGAT*GTCTTGGAAGGTAAAAGTGGGATGGGAGAATTGGGGAGTTTGGAGATTTGGAAGAGTGAA Apolipoprotein C1 APOC1 CHAK00167 1 496 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A J03217 G 0.05 C 0.95 CCGGTCCTGGTGGTGGTTCTGTCGATCGTCTTGGAAGGTAAAAGTGGGATGGGAGAATTG*GGAGTTTGGAGATTTGGAAGAGTGAAGGTGGCTACAGGCCTGGGGTCCCGGCTTAGAGGA Apolipoprotein C1 APOC1 CHAK00168 1 713 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A J03217 C 0.95 T 0.05 ATCTGCGCAGGAGAGCACTAGCAACCGATGACGTATTGAGGCCCACACCTCTGGGATTGG*TGTCCTGCTTCGACAGCCTTGAAAGTGGGTAAGCTGGGTGGGGGGCTCTGGGAGAGGTCA Apolipoprotein C1 APOC1 CHAK00169 1 1020 Not Confirmed Likely Medium African Intron N/A N/A N/A 0 N/A N/A J03217 G 0.9 T 0.1 GCCTCAGCAGGACTACAGGCGCCCGCCTCCGCGCCCGGCTAATTTTTTGTATTTTCAGTA*AGACAGGGTTTCACCGTGGTCTCGATCTCCTGACTTTGTGATCCGCCTGCCTCGACCTCC Apolipoprotein C1 APOC1 CHAK00170 1 1044 Not Confirmed Likely Rare U.S. White Intron N/A N/A N/A 0 N/A N/A J03217 G 0.95 A 0.05 GCCTCCGCGCCCGGCTAATTTTTTGTATTTTCAGTAGAGACAGGGTTTCACCGTGGTCTC*ATCTCCTGACTTTGTGATCCGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCGTG Apolipoprotein C1 APOC1 CHAK00171 1 1057 Not Confirmed Likely High Both Intron N/A N/A N/A 0 N/A N/A J03217 T 0.7 C 0.3 GCTAATTTTTTGTATTTTCAGTAGAGACAGGGTTTCACCGTGGTCTCGATCTCCTGACTT*GTGATCCGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCC Apolipoprotein C1 APOC1 CHAK00172 1 1111 Not Confirmed Likely Low African Intron N/A N/A N/A 0 N/A N/A J03217 C 0.9 T 0.1 TGACTTTGTGATCCGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC*GCGTCCGGCCATTCCTCCCCATTCTAACCACATGATCCCCAAGGATCTCTATCCATCCCG Apolipoprotein C1 APOC1 CHAK00173 1 1376 Not Confirmed Likely High U.S. White Intron N/A N/A N/A 0 N/A N/A J03217 G 0.55 T 0.45 CTTCGTCTCTAGCTAAAAATACAAAAAAATTAGGCCAGGTGTGGAGGCACGCGCCTGTAG*CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCA Apolipoprotein C2 APOC2 CHAK00175 N/A 13 Not Confirmed Likely Medium U.S. White Promoter N/A N/A N/A 0 N/A N/A J02698 T 0.2 A 0.8 AGGGGGCTGTGTCCAAGTCCATGCATGGGAAACTTGACTGGGACACCGAGC*CACACAGAGCAGGATCTCAGTCCCCCCCACCAGAGTGGGCGTGACCACAGGAACAGCCGC Apolipoprotein C2 APOC2 CHAK00176 N/A 126 Not Confirmed Likely Rare African 5' UTR N/A N/A N/A 0 N/A N/A J02698 C 0.95 T 0.05 ACAGCCGCCTCCAGTCAGCCTGCCACATGACACCCCCTCAATGTTCCAGGTCTCTGGACA*TATGGGCACACGACTCCTCCCAGCTCTGTTTCTTGTCCTCCTGGTATTGGGATTTGGTGA Apolipoprotein C2 APOC2 CHAK00177 N/A 472 Not Confirmed Likely Rare African Coding Glu Lys Nonsynonymous 1 GAG AAG J02698 G 0.95 A 0.05 GTGAAGGAATCTCTCTCCAGTTACTGGGAGTCAGCAAAGACAGCCGCCCAGAACCTGTAC*AGAAGACATACCTGCCCGCTGTAGATGAGAAACTCAGGTAGCACCTGCCCCTGGAGAAAT Apolipoprotein C2 APOC2 CHAK00178 N/A 553 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A J02698 G 0.95 A 0.05 GTAGATGAGAAACTCAGGTAGCACCTGCCCCTGGAGAAATGGGGTCTGGCCCATACCACC*ACTGCATCCAGGACCCAGAAGTTCAGGCCCCAGCCCTCCTCCCTCAGACCCAGGAGTCCA Apolipoprotein C2 APOC2 CHAK00179 N/A 725 Not Confirmed Likely High U.S. White Intron N/A N/A N/A 0 N/A N/A J02698 T 0.3 C 0.7 TCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG*CCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAAC Apolipoprotein C2 APOC2 CHAK00180 N/A 804 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A J02698 A 0.95 T 0.05 CAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTCCCC*GGGACTTGTACAGCAAAAGCACAGCAGCCATGAGCACTTAGACAGGCATTTTTACTGACC Apolipoprotein C2 APOC2 CHAK00181 N/A 819 Confirmed Likely High African Coding Lys Gln Nonsynonymous 1 AAA CAA J02698 A 0.7 C 0.3 AGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTCCCCAGGGACTTGTACAGC*AAAGCACAGCAGCCATGAGCACTTAGACAGGCATTTTTACTGACCAAGTTCTTTCTGTGC Apolipoprotein C2 APOC2 CHAK00182 N/A 1084 Not Confirmed Likely Rare Both 3' UTR N/A N/A N/A 0 N/A N/A J02698 G 0.95 T 0.05 AATAAAAAATACAATTCAAGTTGCTTCTCATGGATGGCACTGCTTTTCTGAGGACTCAAG*GCCAAGATGGAGGGGCTGACTCAGTCCAGCCAACATTTAATGAGCACCTACTTTATGTAT Apolipoprotein C3 APOC3 CHAK00183 N/A 429 Not Confirmed Certain High Both 3' UTR N/A N/A N/A 0 N/A N/A J00098 A 0.3 C 0.7 GGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGG*AGCCCTGGAGATTGCAGGACCCAAGGAGCTGGCAGGATGGATAGGCAGGTGGACTTGGGG Apolipoprotein C3 APOC3 CHAK00184 N/A 460 Not Confirmed Likely Low Both 3' UTR N/A N/A N/A 0 N/A N/A J00098 G 0.95 C 0.05 TACTGTCCCTTTTAAGCAACCTACAGGGGAAGCCCTGGAGATTGCAGGACCCAAGGAGCT*GCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGT Apolipoprotein C3 APOC3 CHAK00185 N/A 636 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A J00098 G 0.95 A 0.05 CTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGG*AAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGT Apolipoprotein C3 APOC3 CHAK00186 N/A 954 Not Confirmed Certain High Both Intron N/A N/A N/A 0 N/A N/A J00098 A 0.55 G 0.45 TGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACC*CCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCA Apolipoprotein C3 APOC3 CHAK00187 N/A 1148 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A J00098 T 0.95 A 0.05 TTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAA*GTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGT Apolipoprotein C3 APOC3 CHAK00188 N/A 1322 Not Confirmed Likely High African Intron N/A N/A N/A 0 N/A N/A J00098 G 0.7 A 0.3 CTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATT*GGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGTCCCCAACCCCCAAGTCATA Apolipoprotein C3 APOC3 CHAK00189 N/A 1468 Not Confirmed Likely Rare U.S. White Intron N/A N/A N/A 0 N/A N/A J00098 A 0.95 C 0.05 CCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAAT*CGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACC Apolipoprotein C3 APOC3 CHAK00190 N/A 1519 Not Confirmed Certain High Both Intron N/A N/A N/A 0 N/A N/A J00098 A 0.55 G 0.45 CCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCT*TTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTG Apolipoprotein C3 APOC3 CHAK00191 N/A 1637 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A J00098 T 0.95 A 0.05 CTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAA*TGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGA Apolipoprotein C3 APOC3 CHAK00192 N/A 1722 Not Confirmed Likely Medium Both Intron N/A N/A N/A 0 N/A N/A J00098 A 0.85 G 0.15 GTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCC*GGCGCAGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCC Apolipoprotein C3 APOC3 CHAK00193 N/A 1728 Not Confirmed Likely High U.S. White Intron N/A N/A N/A 0 N/A N/A J00098 A 0.7 G 0.3 AAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGC*GTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGT Apolipoprotein C3 APOC3 CHAK00195 N/A 1774 Not Confirmed Likely High U.S. White Intron N/A N/A N/A 0 N/A N/A J00098 A 0.65 C 0.35 ATGGGGCCAGGCGCAGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGG*GGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCT Apolipoprotein C3 APOC3 CHAK00196 N/A 1817 Not Confirmed Likely High African Intron N/A N/A N/A 0 N/A N/A J00098 T 0.7 C 0.3 TGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACA*GGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTG Apolipoprotein C3 APOC3 CHAK00197 N/A 1931 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A J00098 C 0.95 T 0.05 GTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGA*GGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGGGAGAC Apolipoprotein C3 APOC3 CHAK00198 N/A 1975 Not Confirmed Likely Rare U.S. White Intron N/A N/A N/A 0 N/A N/A J00098 G 0.95 A 0.05 GGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCT*GGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGA Apolipoprotein C3 APOC3 CHAK00199 N/A 2221 Not Confirmed Certain Low Both Intron N/A N/A N/A 0 N/A N/A J00098 G 0.95 A 0.05 AAAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGC*CGGCCCTAGGACTGCTCCGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTG Apolipoprotein C3 APOC3 CHAK00200 N/A 2535 Not Confirmed Certain Medium Both Coding Gly Gly Synonymous 3 GGC GGT J00098 G 0.75 A 0.25 CTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTA*CCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCA Apolipoprotein C3 APOC3 CHAK00201 N/A 2854 Not Confirmed Certain High African Promoter N/A N/A N/A 0 N/A N/A J00098 C 0.7 T 0.3 AGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGG*GTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCTGC Apolipoprotein C4 APOC4 CHAK00202 N/A 483 Not Confirmed Likely Rare U.S. White Intron N/A N/A N/A 0 N/A N/A U32576 T 0.95 G 0.05 TGGCGTGCGTATGCATGTGCGTGTCGGGGAGTGTGTGTGTCGGTGGCTGAGAGTGAAGTG*GAATGTCACATTGGTACAAACTGGGATCATCTGTGTGTGTGCACGTGCGTGCGTGGAAGT Apolipoprotein C4 APOC4 CHAK00203 N/A 931 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A U32576 A 0.95 G 0.05 TGCCTGGCTAATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTACCCAGGCTGGAGTGC*GTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT Apolipoprotein C4 APOC4 CHAK00204 N/A 968 Not Confirmed Likely Medium Both Intron N/A N/A N/A 0 N/A N/A U32576 C 0.75 T 0.25 CTCTGTTACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCC*GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCACCA Apolipoprotein C4 APOC4 CHAK00205 N/A 1150 Not Confirmed Likely High U.S. White Intron N/A N/A N/A 0 N/A N/A U32576 T 0.4 C 0.6 TGGTCTCCATATCCTGACCTCGTGATCCGCCTGCCTCGGCCTTCCAAAGTGCTAGGATTA*AGGCGTGAGCCACTGCGCCTGGCCAATGCCTGGCTAATTTTTTTATATTTTTGGTAGAGA Apolipoprotein C4 APOC4 CHAK00206 N/A 1246 Not Confirmed Likely Medium U.S. White Intron N/A N/A N/A 0 N/A N/A U32576 A 0.2 C 0.8 AATTTTTTTATATTTTTGGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAA*TCCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGA Apolipoprotein C4 APOC4 CHAK00207 N/A 1281 Not Confirmed Likely Medium African Intron N/A N/A N/A 0 N/A N/A U32576 C 0.9 T 0.1 CCATGTTGCCCAGGCTGGTCTTGAAATCCTGACCTCAGGTGATCCGCCCGCCTTGGCCTC*CAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCATGTACTTTATGTTAAAAT Apolipoprotein C4 APOC4 CHAK00209 N/A 1313 Not Confirmed Likely High U.S. White Intron N/A N/A N/A 0 N/A N/A U32576 A 0.5 G 0.5 CCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACC*CGCCCGGCCATGTACTTTATGTTAAAATGGGATCATATTCTAGATCAGCATTATCCAGTA Apolipoprotein C4 APOC4 CHAK00210 N/A 1406 Not Confirmed Likely Low U.S. White Intron N/A N/A N/A 0 N/A N/A U32576 G 0.9 A 0.1 TCATATTCTAGATCAGCATTATCCAGTAGAAATTTAAATTTTTAATACAGGGCCAGGCAC*GTGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCGGGTGGATCGCAAGGTCA Apolipoprotein C4 APOC4 CHAK00211 N/A 1446 Not Confirmed Likely Low U.S. White Intron N/A N/A N/A 0 N/A N/A U32576 G 0.9 A 0.1 TTTAATACAGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGA*GCGGGTGGATCGCAAGGTCAGGAGATTTGAGATCATCCTGGCTAACAGATGGGTAAAAAC Apolipoprotein C4 APOC4 CHAK00212 N/A 1587 Not Confirmed Likely Medium Both Intron N/A N/A N/A 0 N/A N/A U32576 C 0.2 A 0.8 AAAAATTAGCCATGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC*GGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCAT Apolipoprotein C4 APOC4 CHAK00213 N/A 1782 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A U32576 G 0.95 C 0.05 GGCACCATTCCATGTGCATCGTATGTAGTAACTCTTAATTCTCACGATAACCCTGAGGTA*ATATTATTACCCCGTTCTACAAAAGGAGAAACAGTCCTGGGGAGACAGGATAAGTCACCG Apolipoprotein C4 APOC4 CHAK00214 N/A 1794 Not Confirmed Likely Low African Intron N/A N/A N/A 0 N/A N/A U32576 C 0.95 T 0.05 TGTGCATCGTATGTAGTAACTCTTAATTCTCACGATAACCCTGAGGTAGATATTATTACC*CGTTCTACAAAAGGAGAAACAGTCCTGGGGAGACAGGATAAGTCACCGGCCAAGGCACAC Apolipoprotein C4 APOC4 CHAK00215 N/A 1842 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A U32576 G 0.95 A 0.05 GATATTATTACCCCGTTCTACAAAAGGAGAAACAGTCCTGGGGAGACAGGATAAGTCACC*GCCAAGGCACACAGCTAGCTACATGTGGCCCCCGCGTGACGGCTGGTCTCTGTAGGCGAG Apolipoprotein C4 APOC4 CHAK00216 N/A 1858 Not Confirmed Certain Medium Both Intron N/A N/A N/A 0 N/A N/A U32576 T 0.25 C 0.75 TCTACAAAAGGAGAAACAGTCCTGGGGAGACAGGATAAGTCACCGGCCAAGGCACACAGC*AGCTACATGTGGCCCCCGCGTGACGGCTGGTCTCTGTAGGCGAGGCTTTGTCCAGATGCG Apolipoprotein C4 APOC4 CHAK00217 N/A 1875 Not Confirmed Likely Low Both Intron N/A N/A N/A 0 N/A N/A U32576 C 0.95 T 0.05 AGTCCTGGGGAGACAGGATAAGTCACCGGCCAAGGCACACAGCTAGCTACATGTGGCCCC*GCGTGACGGCTGGTCTCTGTAGGCGAGGCTTTGTCCAGATGCGTGGGTAGAAGGTCTGGC Apolipoprotein C4 APOC4 CHAK00218 N/A 2206 Not Confirmed Likely Low African Intron N/A N/A N/A 0 N/A N/A U32576 A 0.9 G 0.1 GGAACCACAGGCAGACAGGGTGACAGGAGGGACTACTGACACAAGGTGAAGAGATGGCCC*GCCGGACGGGGTGGCTCACATCTGTAATCCCAGCATTTTGGGAGCCCGAGGTGGGTGGAT Apolipoprotein C4 APOC4 CHAK00219 N/A 2237 Not Confirmed Likely Low U.S. White Intron N/A N/A N/A 0 N/A N/A U32576 C 0.9 T 0.1 ACTACTGACACAAGGTGAAGAGATGGCCCAGCCGGACGGGGTGGCTCACATCTGTAATCC*AGCATTTTGGGAGCCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCCCAACA Apolipoprotein C4 APOC4 CHAK00220 N/A 2276 Not Confirmed Likely High Both Intron N/A N/A N/A 0 N/A N/A U32576 T 0.7 C 0.3 GGTGGCTCACATCTGTAATCCCAGCATTTTGGGAGCCCGAGGTGGGTGGATCACTTGAGG*CAGGAGTTCGAGGCCCCAACATGGCAAAACCCCATCTCTTCTAAAAATACAAAAATTAGC Apolipoprotein C4 APOC4 CHAK00221 N/A 2345 Not Confirmed Likely High U.S. White Intron N/A N/A N/A 0 N/A N/A U32576 A 0.7 G 0.3 CGAGGCCCCAACATGGCAAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCGGGCATG*TGGCAGATGCCTGTAATCCCTGCTACTCGGGAGGCTGAGGCAGGAAAATTGCCTGAATCC Apolipoprotein C4 APOC4 CHAK00222 N/A 2366 Not Confirmed Likely High U.S. White Intron N/A N/A N/A 0 N/A N/A U32576 T 0.55 A 0.45 CCCCATCTCTTCTAAAAATACAAAAATTAGCCGGGCATGATGGCAGATGCCTGTAATCCC*GCTACTCGGGAGGCTGAGGCAGGAAAATTGCCTGAATCCAGGAGGTGGAGGTTGCAATGA Apolipoprotein C4 APOC4 CHAK00223 N/A 2767 Not Confirmed Likely Rare African Coding Trp Stop Nonsynonymous 3 TGG TGA U32576 G 0.95 A 0.05 CCAGCCAGAGGCCCAGGAAGGAACCCTGAGCCCCCCACCAAAGCTAAAGATGAGTCGCTG*AGCCTGGTGAGGGGCAGGATGAAGGAGCTGCTGGAGACAGTGGTGAACAGGACCAGAGAC Apolipoprotein C4 APOC4 CHAK00224 N/A 3027 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A U32576 G 0.95 A 0.05 GTCTGGGAGGAGTGGAGGGTTAGAGCTGAGAGCAGGAACTCCTAGGTCACAGAGAGGAGC*GATAAATGGGGCAGAGAACACCTGGGGAGAGCTGGGGCCTCCACTGTGATGTCCTCTCTC Apolipoprotein C4 APOC4 CHAK00225 N/A 3078 Not Confirmed Likely Rare U.S. White Intron N/A N/A N/A 0 N/A N/A U32576 G 0.95 C 0.05 GAGAGGAGCGGATAAATGGGGCAGAGAACACCTGGGGAGAGCTGGGGCCTCCACTGTGAT*TCCTCTCTCCTGTAGGAGCCCGAGCACCTTCCGGGGCTTCATGCAGACCTACTATGACGA Apolipoprotein C4 APOC4 CHAK00226 N/A 3162 Confirmed Certain High Both Coding Leu Arg Nonsynonymous 2 CTC CGC U32576 T 0.5 G 0.5 GCACCTTCCGGGGCTTCATGCAGACCTACTATGACGACCACCTGAGGGACCTGGGTCCGC*CACCAAGGCCTGGTTCCTCGAATCCAAAGACAGCCTCTTGAAGAAGACCCACAGCCTGTG Apolipoprotein C4 APOC4 CHAK00227 N/A 3252 Not Confirmed Likely Rare U.S. White Coding Gln Leu Nonsynonymous 2 CAG CTG U32576 A 0.95 T 0.05 ACAGCCTCTTGAAGAAGACCCACAGCCTGTGCCCCAGGCTTGTCTGTGGGGACAAGGACC*GGGTTAAAATGTTCATAAAAGCCAGGTGTGGTTGTGGCGGGTGCCTGTAGTCCCAGCTAC "Plasma Membrane Calcium ATPase, Type 1" ATP2B1 CHAK01019 N/A N/A J Mol Med 1997 Jan;75(1):62-6 N/A N/A Literature Search Coding Met Arg Nonsynonymous 2 ATG AGG N/A T N/A G N/A GTGAATCAGATCATGTTAAAAAGTCTTTAGATAAGGATCCCTTACTTCTATCAGGTACTCATGTAA*GGAAGGCTCTGGAAGAATGGTAGTTACAGCTGTAGGTGTAAATTCTCAAACTGGAATTATCTTTACC Arginine Vasopressin AVP CHAK00254 2 154 Not Confirmed Likely Low African Coding Pro Leu Nonsynonymous 2 CCG CTG M11166 C 0.95 T 0.05 AGCTGGGCTGCTTCGTGGGCACGGCTGAGGCGCTGCGCTGCCAGGAGGAGAACTACCTGC*GTCGCCCTGCCAGTCCGGCCAGAAGGCGTGCGGGAGCGGGGGCCGCTGCGCCGCCTTCGG Arginine Vasopressin Receptor 2 AVPR2 CHAK00255 1 114 Not Confirmed Likely Rare African Coding Thr Ser Nonsynonymous 1 ACT TCT U52112 A 0.95 T 0.05 ACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACC*CTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGG Arginine Vasopressin Receptor 2 AVPR2 CHAK00256 2 109 Not Confirmed Certain Rare African Coding Leu Leu Synonymous 3 CTG CTA U52112 G 0.95 A 0.05 TCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCT*CTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAAT Arginine Vasopressin Receptor 2 AVPR2 CHAK00257 2 129 Not Confirmed Likely Low African Coding Ala Val Nonsynonymous 2 GCG GTG U52112 C 0.9 T 0.1 ACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGG*GCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCT Arginine Vasopressin Receptor 2 AVPR2 CHAK00258 2 184 Not Confirmed Likely Low African Coding Ala Ala Synonymous 3 GCG GCT U52112 G 0.9 T 0.1 GCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGC*GCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCAC Arginine Vasopressin Receptor 2 AVPR2 CHAK00259 2 444 Not Confirmed Certain Medium African Coding Ala Val Nonsynonymous 2 GCG GTG U52112 C 0.85 T 0.15 CCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGG*GTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTC Arginine Vasopressin Receptor 2 AVPR2 CHAK00260 3 46 Confirmed Likely High U.S. White Coding Leu Leu Synonymous 3 CTA CTG U52112 A 0.55 G 0.45 CCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCT*CTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGC Arginine Vasopressin Receptor 2 AVPR2 CHAK00261 3 112 Not Confirmed Certain Medium Both Coding Ser Ser Synonymous 3 AGC AGT U52112 C 0.9 T 0.1 GTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAG*GTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTG Arginine Vasopressin Receptor 2 AVPR2 CHAK00262 3 232 Not Confirmed Likely Rare African Coding Ser Ser Synonymous 3 TCG TCA U52112 G 0.95 A 0.05 GGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATC*TGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGG Arginine Vasopressin Receptor 2 AVPR2 CHAK00263 3 252 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A U52112 T 0.95 C 0.05 GCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTC*TGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTG Bradykinin Receptor Beta 2 BDKRB2 CHAK00283 1 55 Confirmed Likely Medium U.S. White 5' UTR N/A N/A N/A 0 N/A N/A X86173 T 0.75 G 0.25 GAAAGATGAGCTGTTCCCGCCGCCACTCCAGCTCTGGCTTCTGGGCTCCGAGGAGGGGTGGGGACGGTGG*GACGGTGGGGACATCAGGCTGCCCCGCAGTACCAGGGAGCGACTGAAGTGCCCATGCCGCTTGCTCCGGA Bradykinin Receptor Beta 2 BDKRB2 CHAK00284 3 747 Confirmed Likely Low Both Coding Thr Thr Synonymous 3 ACG ACA "L27594, M88714" G 0.9 A 0.1 CCTTCTGCACGATGCAGATCATGCAGGTGCTGCGGAACAACGAGATGCAGAAGTTCAAGGAGATCCAGAC*GAGAGGAGGGCCACGGTGCTAGTCCTGGTTGTGCTGCTGCTATTCATCATCTGCTGGCTGCCCTTCCAGA Bradykinin Receptor Beta 2 BDKRB2 CHAK00285 3 1513 Confirmed Likely Low U.S. White 3' UTR N/A N/A N/A 0 N/A N/A "L27594, M88714" T 0.9 C 0.1 GTGACTGAGCTTCCCTCCCGTGTGTTCTCCGTCCCTGCCCCAGCAAGACAACTTAGATCTCCAGGAGAAC*GCCATCCAGCTTTGGTGCAATGGCTGAGTGCACAAGTGAGTTGTTGCCCTGGGTTTCTTTAATCTATTCA Bradykinin Receptor Beta 2 BDKRB2 CHAK00286 3 1833 Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A "L27594, M88714" G 0.95 A 0.05 TGTAGGCAAGAGGGAAGAAAGAGAAGGAGCCATCTCCATCTTGAAGGAACTCAAAGACTCAAGTGGGAAC*ACTGGGCACTGCCACCACCAGAAAGCTGTTCGATGAGACGGTCGAGCAGGGTGCTGTGGGTGATATGGAC Bombesin-like Receptor 3 BRS3 CHAK00291 1 424 Not Confirmed Likely Rare U.S. White Promoter N/A N/A N/A 0 N/A N/A X76498 G 0.95 A 0.05 AGTGCCAGATGGGTAAGCATTTAGCCAAGCATGCTGGGAGACACACAGAACTGAAGCAAA*GAGTATCTGGATGTCTTGGATTTTCTTCCCATTCTGTTCTGTTCTGTTCTCCTAATACCA Bombesin-like Receptor 3 BRS3 CHAK00292 1 730 Not Confirmed Likely Rare African Coding Thr Pro Nonsynonymous 1 ACT CCT X76498 A 0.95 C 0.05 AATAAAGGATGGAGCGGGGACAACTCTCCAGGAATAGAAGCATTGTGTGCCATCTATATT*CTTATGCTGTGATCATTTCAGTGGGTATCCTTGGAAATGCTATTCTCATCAAAGTCTTTT Bombesin-like Receptor 3 BRS3 CHAK00293 1 879 Not Confirmed Likely Rare U.S. White N/A Pro Pro Synonymous 3 CCA CCT X76498 A 0.95 T 0.05 AAATATTTTCATCACCAGCCTGGCTTTTGGAGATCTTTTACTTCTGCTAACTTGTGTGCC*GTGGATGCAACTCACTACCTTGCAGAAGGATGGCTGTTCGGAAGAATTGGTTGTAAGGTG Bombesin-like Receptor 3 BRS3 CHAK00294 2 80 Not Confirmed Likely Rare African Coding Leu Gln Nonsynonymous 2 CTG CAG X76498 T 0.95 A 0.05 GTGTTTCTAGATACAAGGCAGTTGTGAAGCCACTTGAGCGACAGCCCTCCAATGCCATCC*GAAGACTTGTGTAAAAGCTGGCTGCGTCTGGATCGTGTCTATGATATTTGCTCTACCTGA Bombesin-like Receptor 3 BRS3 CHAK00295 2 144 Not Confirmed Likely Low U.S. White Coding Ala Ala Synonymous 3 GCT GCA X76498 T 0.9 A 0.1 GACTTGTGTAAAAGCTGGCTGCGTCTGGATCGTGTCTATGATATTTGCTCTACCTGAGGC*ATATTTTCAAATGTATACACTTTTCGAGATCCCAATAAAAATATGACATTTGAATCATGT Bombesin-like Receptor 3 BRS3 CHAK00296 3 173 Not Confirmed Likely Low African Coding Ile Ile Synonymous 3 ATT ATC X76498 T 0.9 C 0.1 GTACCTCTACCATTCATTCACTTCTCAAACCTATGTAGACCCCTCTGCCATGCATTTCAT*TTCACCATTTTCTCTCGGGTTTTGGCTTTCAGCAATTCTTGCGTAAACCCCTTTGCTCTC Calcitonin/Calcitonin Gene Related Peptide CALCA CHAK00297 1+2 940 Not Confirmed Certain Medium African 5' UTR N/A N/A N/A 0 N/A N/A X15943 G 0.9 A 0.1 AGGGACCGCGCACAGAGCCTGAGGCAAGAGAAACTTTCCGCAGACGGTGCGATCAGGGAC*GCGTCTGGAGCCCAGCAGTCCCAGGGAAATTGGTTCAGAACCTGGAACAGAGCGGATGGG Calcitonin/Calcitonin Gene Related Peptide CALCA CHAK00298 1+2 1063 Not Confirmed Likely Rare U.S. White 5' UTR N/A N/A N/A 0 N/A N/A X15943 T 0.95 G 0.05 GCAAATAGGCACGACGACTGAGGGACAAGCAGCCCTAAACTGCAAGCCCCAGTCACAGGC*CTGGGAGCAAAGAGAGAAAGTCTTGGGTCCCAATTTAAGAGTAAAACTTGGTTCCTGCAG Calcitonin/Calcitonin Gene Related Peptide CALCA CHAK00299 3 112 Not Confirmed Certain Low African Coding Asp Asn Nonsynonymous 1 GAC AAC X15943 G 0.95 A 0.05 GCAGACCCGGCCACGCTCAGTGAGGACGAAGCGCGCCTCCTGCTGGCTGCACTGGTGCAG*ACTATGTGCAGATGAAGGCCAGTGAGCTGGAGCAGGAGCAAGAGAGAGAGGGCTCCAGGT Calcitonin/Calcitonin Gene Related Peptide CALCA CHAK00300 3 120 Not Confirmed Certain Rare African Coding Val Val Synonymous 3 GTG GTT X15943 G 0.95 T 0.05 GGCCACGCTCAGTGAGGACGAAGCGCGCCTCCTGCTGGCTGCACTGGTGCAGGACTATGT*CAGATGAAGGCCAGTGAGCTGGAGCAGGAGCAAGAGAGAGAGGGCTCCAGGTGAGGCTCC Calcitonin/Calcitonin Gene Related Peptide CALCA CHAK00301 4 30 Not Confirmed Likely Low African Coding Ser Arg Nonsynonymous 3 AGC AGA X15943 C 0.9 A 0.1 GACTGCCCATGGGGACAGATTCTGGTGCATGGTACTGTCTGGTATGTGTTTTCCCTGCAG*CTGGACAGCCCCAGATCTAAGCGGTGTGGTAATCTGAGTACTTGCATGCTGGGCACATAC Calcitonin/Calcitonin Gene Related Peptide CALCA CHAK00302 5 309 Confirmed Certain Medium Both 3' UTR N/A N/A N/A 0 N/A N/A X15943 A 0.8 T 0.2 CTGGTTTTTACTGGGGTGTAAAACCACTCTGAGCCTCTCTGAGACCATGTGGTTTTAAAA*ATCCATAAGGGAAGGTACCCACACCAGTATCTGAGTTCCAGTAGCTAAGACCCTAGAATT Calcitonin/Calcitonin Gene Related Peptide CALCA CHAK00303 5 433 Not Confirmed Likely Medium Both 3' UTR N/A N/A N/A 0 N/A N/A X15943 C 0.85 T 0.15 ATTCATCTCTGTTTTTTCATGTCTCTCCTTGTAACCCTGAGATCATCAGACCAAGAAATA*AGATCCTGTTTATTTAGAACACTGCTGTTTGACATTTATTAATTTTGATTATTCTAGCCT Calcitonin/Calcitonin Gene Related Peptide CALCA CHAK00304 5 719 Not Confirmed Likely Low African 3' UTR N/A N/A N/A 0 N/A N/A X15943 G 0.95 A 0.05 CTGTAAATTGAGGGCTACAATAGTACCTACCTCCAAGCATTACTATAAAGAGCAAGTGAG*TAATAGATGTTAAGTCTGACAATTAACCAGTAACTAAATTCTAGCTGTTATTTTCTTCCT Calcium Sensing Receptor CASR CHAK00931 N/A AA1011 J Clin Endocrinol Metab 1996 Apr;81(4):1312-7 N/A N/A Literature Search Coding Gln Glu Nonsynonymous 1 CAG GAG N/A C N/A G N/A GAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACAC*AGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAAC Calcium Sensing Receptor CASR CHAK00932 N/A N/A J Clin Endocrinol Metab 1996 Apr;81(4):1312-7 N/A N/A Literature Search Coding Ala Ser Nonsynonymous 1 GCC TCC N/A G N/A T N/A TCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAAC*CCATGGCCCACGGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGAT Calcium Sensing Receptor CASR CHAK00933 N/A AA990 J Clin Endocrinol Metab 1996 Apr;81(4):1312-7 N/A N/A Literature Search Coding Gly Arg Nonsynonymous 1 GGG AGG N/A G N/A A N/A TCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCAC*GGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGAT Cadherin 1 CDH1 CHAK00934 N/A 11 Hum Genet 1995 Dec;96(6):739-40 N/A N/A Literature Search Coding Ser Ser Synonymous 3 TCT TCA N/A T N/A A N/A TTCTTTCCTTTTAGGCCTCCGTTTC*GGAATCCAAGCAGAATTGCTCACATTTCCCAACTCCTCTCCTGGCCTCAGAAGACAGAAGAGAGACT Cadherin 1 CDH1 CHAK00935 N/A 32 Hum Genet 1995 Dec;96(6):739-40 N/A N/A Literature Search Coding Leu Leu Synonymous 1 CTG TTG N/A C N/A T N/A GTATTTTCTCTTAGGTTCTCCAGTTGCTACTGGAACAGGGACACTT*TGCTGATCCTGTCTGATGTGAATGACAACGCCCCCATACCAGAACCTCGAACTATATTCTTCT Cadherin 1 CDH1 CHAK00936 N/A 181 Hum Genet 1995 Dec;96(6):739-40 N/A N/A Literature Search Coding Thr Thr Synonymous 3 ACG ACA N/A G N/A A N/A ACGGTTTCATAACCCACAGATCCATTTCTTGGTCTACGCCTGGGACTCCACCTACAGAAAGTTTTCCACCAAAGTCAC*CTGAATACAGTGGGGCACCACCACCGCCCCCCGCCCCATCAGGTATGTTGGC Chloride Channel 6 CLCN6 CHAK00937 N/A (+)273 In house N/A N/A Literature Search Intron N/A N/A N/A 0 N/A N/A N/A T N/A A N/A AAATATGTTCATCAGCACCCTGGGCAAGTCCCCTGATCTGTCTGCACTCCCTTTCTTCCTGATTCATGAGATGCAAATGGCTTATT*GGAAGTTTAAGTGAGAAAGCACTAAGTAAAGTGGCTGGGGGGTGAATGTGTCCCCCCACCAAAAGATATGGCCAAGTCCTAAGCCCTAGTACCTATGAAT Chloride Channel 6 CLCN6 CHAK00938 N/A (+)455 In house N/A N/A Literature Search Intron N/A N/A N/A 0 N/A N/A N/A G N/A A N/A CTGGATTCTGAATCGGAATCAGGAGGAACCCAGGGCCAGTGCTCCTTCCTCCTGGTACCCAAGGGATGTCTGCTAGACCCTGCACTGCTCCCCACAGCAC*TGGTTCTGGTCCTTCAGCTTTCCCAGCTGTCCTGAGCTTTCCTGTGGATTTCTTTCTCTTTCTTAAGGAGGTCGAAGTCCATTTCTGTTGCTGGCATCTC Chloride Channel 6 CLCN6 CHAK00939 N/A (+)712 In house N/A N/A Literature Search Intron N/A N/A N/A 0 N/A N/A N/A G N/A A N/A AAAAACAGATCTGTCCACATGCTCATTGCGGCAAGAACGCACACACATCTTCACGGCCTGATAAAGCTGCCCCTGCTGTCAAATCTACTCTCCCTGTCGC*TGTGATGAGAACAGTGCCACTTTCCCTGAGAGCCGGTAAGTCCACCCAGCAAGGGTGGGCAAAGCACTAAGCCGTGTGAG Chloride Channel 6 CLCN6 CHAK00940 N/A (+)794 In house N/A N/A Literature Search Intron N/A N/A N/A 0 N/A N/A N/A G N/A A N/A CCCCCTGGTATTGTTAGCACGTCCACATAATGGCATCTCCACAGCTGTGTCATCCAGAAGAAACCCATAGCCTTGATTAACCTTTGTAATAAGACTCCCT*TTTGCATGCACAGTGATAGGTGTGAAGTACAACCTTGTACCGTTGTACACTGTCAACTAGAAAATAAAACAGCACACTTGAAACACCCTTGCCTTCTAGC Chloride Channel 6 CLCN6 CHAK00941 N/A (+)816 In house N/A N/A Literature Search Intron N/A N/A N/A 0 N/A N/A N/A G N/A A N/A CCTGGCGGGGTCACACAAACCACCCCCTGGTATTGTTAGCACGTCCACATAATGGCATCTCCACAGCTGTGTCATCCAGAAGAAACCCATAGCCTTGATT*ACCTTTGTAATAAGACTCCCTATTTGCATGCACAGTGATAGGTGTGAAGTACAACCTTGTACCGTTGTACACTGTCAACTAGAAAATAAAACAGCACACT Chloride Channel 6 CLCN6 CHAK00942 N/A (+)922 In house N/A N/A Literature Search Intron N/A N/A N/A 0 N/A N/A N/A G N/A A N/A CGCTGAGGCTCTGCACATGGCTCACCAGTGCCAGGTGCTGCCAGTCAGCAGTGCCGTGCTGTTTGCACAGCAGCCTGCATACGTCTATATTGCCCAGCCC*TTTCACCTGGCGGGGTCACACAAACCACCCCCTGGTATTGTTAGCACGTCCACATAATGGCATCTCCACAGCTGTGTCATCCAGAAGAAACCCATAGCCT Chloride Channel 6 CLCN6 CHAK00943 N/A (+)958 In house N/A N/A Literature Search Intron N/A N/A N/A 0 N/A N/A N/A G N/A C N/A CCATCAAGCTGAGCTCATCCCCCGTGCACTCCACAACGCTGAGGCTCTGCACATGGCTCACCAGTGCCAGGTGCTGCCAGTCAGCAGTGCCGTGCTGTTT*CACAGCAGCCTGCATACGTCTATATTGCCCAGCCCGTTTCACCTGGCGGGGTCACACAAACCACCCCCTGGTATTGTTAGCACGTCCACATAATGGCATC "Chloride Channel, Kidney, B" CLCNKB CHAK00312 10 33 Confirmed Likely High African Coding Val Leu Nonsynonymous 1 GTT CTT Z30644 G 0.6 C 0.4 AGGTTCAGCTCCAAACTGCTGGCCACCAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTG*TTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGCTGTCCA "Chloride Channel, Kidney, B" CLCNKB CHAK00313 13 12 Not Confirmed Likely Medium Both Coding Ile Ile Synonymous 3 ATC ATT Z30644 C 0.85 T 0.15 CCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGAGCTGCTAT*GGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGG "Chloride Channel, Kidney, B" CLCNKB CHAK00314 15 64 Not Confirmed Likely Low African Coding Thr Met Nonsynonymous 2 ACG ATG Z30644 C 0.9 T 0.1 CCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACA*GCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCGAGTATCCCTTGGT "Chloride Channel, Kidney, B" CLCNKB CHAK00315 15 68 Not Confirmed Likely Low African N/A Pro Pro Synonymous 3 CCA CCG Z30644 A 0.1 G 0.9 CCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACACGCC*CTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCGAGTATCCCTTGGTGGAG "Chloride Channel, Kidney, B" CLCNKB CHAK00316 18 51 Not Confirmed Likely Rare African Coding Ser Trp Nonsynonymous 2 TCG TGG Z30644 C 0.95 T 0.05 CCCTGCATGAGGCACACAACCTCTTTGAGCTGTTGAACCTTCATTCCCTCTTTGTGACGT*GCGGGGCAGAGCTGTGGGCTGCGTGTCCTGGGTGGAGATGAAGAAAGCAATTTCCAACCT "Chloride Channel, Kidney, B" CLCNKB CHAK00317 3 34 Not Confirmed Likely Rare African Coding Ser Arg Nonsynonymous 1 AGC CGC Z30644 A 0.95 C 0.05 GACTTGGCTGTTGAGAGTGTGGTCCGAGCGCACCAGTGGCTGTACAGGGAGATTGGGGAC*GCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTT "Chloride Channel, Kidney, B" CLCNKB CHAK00318 3 96 Not Confirmed Likely Low U.S. White Coding Ser Ser Synonymous 3 TCG TCA Z30644 G 0.9 A 0.1 CCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTC*GGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTTCTGGAATCCCGGAGGTGAAGACC "Chloride Channel, Kidney, B" CLCNKB CHAK00319 4 19 Not Confirmed Likely High African Coding Val Leu Nonsynonymous 1 GTG CTG Z30644 G 0.5 C 0.5 TCTTCGGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTTCTGGAATCCCGGAG*TGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGG "Chloride Channel, Kidney, B" CLCNKB CHAK00320 4 70 Not Confirmed Likely Low African Coding Asn His Nonsynonymous 1 AAC CAC Z30644 A 0.9 C 0.1 ATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAG*ACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCC "Chloride Channel, Kidney, B" CLCNKB CHAK00321 7 108 Not Confirmed Likely Low African Coding Ala Ala Synonymous 3 GCG GCA Z30644 G 0.9 A 0.1 GGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGC*GTCTTCAACAGCGAGCAGGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGA "Chymase, Heart" CYH CHAK00305 1 65 Not Confirmed Certain High Both 5' UTR N/A N/A N/A 0 N/A N/A M69137 T 0.65 C 0.35 CTTGGAGTTCAGGCTCAAGTTCCTTTCTAGAAAAACACTGGGTGATTCTAGGGGAACTTC*GATCAGAAACAGCCAATTCAGAGTGAGAGAAGAAAACGTGACCATGCAGTTCCTGTGGTT "Chymase, Heart" CYH CHAK00306 1 158 Not Confirmed Certain Medium African 5' UTR N/A N/A N/A 0 N/A N/A M69137 T 0.9 A 0.1 AAAACGTGACCATGCAGTTCCTGTGGTTACCAGCCTTGCCCCTCTCTTGCCTTCTGGGAG*TATAAAACCCAAGACTGGAAGGAAAACCAGCATTTGCTCAGGCAGCCTCTCTGGGAAGAT "Chymase, Heart" CYH CHAK00307 2 107 Not Confirmed Likely Rare U.S. White Coding Gly Arg Nonsynonymous 1 GGT CGT M69137 G 0.95 C 0.05 ACAGAATGCAAGCCACATTCCCGCCCCTACATGGCCTACCTGGAAATTGTAACTTCCAAC*GTCCCTCAAAATTTTGTGGTGGTTTCCTTATAAGACGGAACTTTGTGCTGACGGCTGCTC "Chymase, Heart" CYH CHAK00308 2 168 Not Confirmed Likely Low U.S. White Coding His Arg Nonsynonymous 2 CAT CGT M69137 A 0.9 G 0.1 GTCCCTCAAAATTTTGTGGTGGTTTCCTTATAAGACGGAACTTTGTGCTGACGGCTGCTC*TTGTGCAGGAAGGTGAGACAACAGGGTCTATTTATCTCCAAATGGGAGATGAACAACCAG "Chymase, Heart" CYH CHAK00309 3 26 Not Confirmed Likely Medium Both Intron N/A N/A N/A 0 N/A N/A M69137 A 0.9 G 0.1 TCACCTCAGAAGAAACCCCAAGCCATCACTGTCGCTCCTTTTCCTTCCTTCTTCCTCACA*CAGGTCTATAACAGTCACCCTTGGAGCCCATAACATAACAGAGGAAGAAGACACATGGCA "Chymase, Heart" CYH CHAK00310 4 83 Not Confirmed Likely Rare African Coding Ser Ser Synonymous 3 TCA TCC M69137 A 0.95 C 0.05 TTCACAGTTGAAGGAGAAAGCCAGCCTGACCCTGGCTGTGGGGACACTCCCCTTCCCATC*CAATTCAACTTTGTCCCACCTGGGAGAATGTGCCGGGTGGCTGGCTGGGGAAGAACAGGT "Chymase, Heart" CYH CHAK00311 5 274 Not Confirmed Certain Medium Both 3' UTR N/A N/A N/A 0 N/A N/A M69137 C 0.8 T 0.2 GACCTGAGCAGCAAAGTGTGTGCCACTCATTCTGGTCTACCCTTGGTCCCTCAGCCACAA*CCTAAGCCTCCAGAAGTATCCTACAGGTCACAGAACTCTCAATAAACCTCAGTGAAGACA 11 Beta Hydroxylase CYP11B1 CHAK00341 1 351 Not Confirmed Likely Rare U.S. White Promoter N/A N/A N/A 0 N/A N/A M32863 T 0.95 C 0.05 ACCTCTGCCCTCGGTCTCTCAGGCAGATCCAGGGCCAGTTCTCCCATGACGTGATCCCTC*CGAAGGCAAGGCACCAGGCAAGATAAAAGGATTGCAGCTGAACAGGGTGGAGGGAGCATT 11 Beta Hydroxylase CYP11B1 CHAK00342 1 525 Not Confirmed Likely Rare U.S. White Coding Pro Pro Synonymous 3 CCC CCG M32863 C 0.95 G 0.05 CCTGCAAAGGGCACAGGCACTGGGCACGAGAGCCGCCCGGGTCCCCAGGACAGTGCTGCC*TTTGAAGCCATGCCCCGGCGTCCAGGCAACAGGTGGCTGAGGCTGCTGCAGATCTGGAGG 11 Beta Hydroxylase CYP11B1 CHAK00343 1 542 Not Confirmed Likely Rare African Coding Arg Gln Nonsynonymous 2 CGG CAG M32863 G 0.95 A 0.05 CACTGGGCACGAGAGCCGCCCGGGTCCCCAGGACAGTGCTGCCCTTTGAAGCCATGCCCC*GCGTCCAGGCAACAGGTGGCTGAGGCTGCTGCAGATCTGGAGGGAGCAGGGTTATGAGGA 11 Beta Hydroxylase CYP11B1 CHAK00344 1 601 Not Confirmed Likely Rare U.S. White Coding Asp His Nonsynonymous 1 GAC CAC M32863 G 0.95 C 0.05 CGGCGTCCAGGCAACAGGTGGCTGAGGCTGCTGCAGATCTGGAGGGAGCAGGGTTATGAG*ACCTGCACCTGGAAGTACACCAGACCTTCCAGGAACTGGGGCCCATTTTCAGGTAAAGCC 11 Beta Hydroxylase CYP11B1 CHAK00345 2 36 Not Confirmed Certain High U.S. White Coding Asp Asp Synonymous 3 GAT GAC M32863 T 0.5 C 0.5 GGGGCCAGCAGGGACTAGACCCCGTCCAGCAGGGCCTCCTGCTTGGCCCCACAGGTACGA*TTGGGAGGAGCAGGCATGGTGTGTGTGATGCTGCCGGAGGACGTGGAGAAGCTGCAACAG 11 Beta Hydroxylase CYP11B1 CHAK00346 2 78 Not Confirmed Likely Rare U.S. White Coding Asp Asp Synonymous 3 GAC GAT M32863 C 0.95 T 0.05 TTGGCCCCACAGGTACGATTTGGGAGGAGCAGGCATGGTGTGTGTGATGCTGCCGGAGGA*GTGGAGAAGCTGCAACAGGTGGACAGCCTGCATCCCCACAGGATGAGCCTGGAGCCCTGG 11 Beta Hydroxylase CYP11B1 CHAK00347 2 184 Not Confirmed Likely Rare U.S. White Coding Leu Leu Synonymous 1 CTG TTG M32863 C 0.95 T 0.05 AGCCTGGAGCCCTGGGTGGCCTACAGACAACATCGTGGGCACAAATGTGGCGTGTTCTTG*TGTAAGCGGCGAGCTGAGAGCTGGGAGCAGGGTGGGCAGCCTGGGTGTAGGGGGGAGGCG 11 Beta Hydroxylase CYP11B1 CHAK00348 2 188 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A M32863 A 0.95 G 0.05 TGGAGCCCTGGGTGGCCTACAGACAACATCGTGGGCACAAATGTGGCGTGTTCTTGCTGT*AGCGGCGAGCTGAGAGCTGGGAGCAGGGTGGGCAGCCTGGGTGTAGGGGGGAGGCGAGAG 11 Beta Hydroxylase CYP11B1 CHAK00349 3 114 Not Confirmed Certain Rare African Coding Met Ile Nonsynonymous 3 ATG ATC M32878 G 0.95 C 0.05 CCGATTGCGGCTGAATCCAGAAGTGCTGTCGCCCAACGCTGTGCAGAGGTTCCTCCCGAT*GTGGATGCAGTGGCCAGGGACTTCTCCCAGGCCCTGAAGAAGAAGGTGCTGCAGAACGCC 11 Beta Hydroxylase CYP11B1 CHAK00350 4 177 Not Confirmed Certain Rare Both Coding Thr Ile Nonsynonymous 2 ACC ATC M32878 C 0.95 T 0.05 AGGTCATGTTCAAATCCACCGTCCAGCTCATGTTCATGCCCAGGAGCCTGTCTCGCTGGA*CAGCCCCAAGGTGTGGAAGGAGCACTTTGAGGCCTGGGACTGCATCTTCCAGTACGGTGA 11 Beta Hydroxylase CYP11B1 CHAK00351 4 205 Not Confirmed Likely Low African Coding Phe Leu Nonsynonymous 3 TTT TTG M32878 T 0.9 G 0.1 CATGTTCATGCCCAGGAGCCTGTCTCGCTGGACCAGCCCCAAGGTGTGGAAGGAGCACTT*GAGGCCTGGGACTGCATCTTCCAGTACGGTGAGGCCAGGGACCCGGGCAGTGCTATGGGG 11 Beta Hydroxylase CYP11B1 CHAK00352 4 247 Not Confirmed Likely Medium U.S. White Intron N/A N/A N/A 0 N/A N/A M32878 C 0.85 G 0.15 GGTGTGGAAGGAGCACTTTGAGGCCTGGGACTGCATCTTCCAGTACGGTGAGGCCAGGGA*CCGGGCAGTGCTATGGGGAAGGACACCATCGGGCCCCCAATTTCTCCCTCTCCA 11 Beta Hydroxylase CYP11B1 CHAK00353 5 16 Not Confirmed Likely High African Intron N/A N/A N/A 0 N/A N/A M32878 C 0.45 T 0.55 AGGAGGAGGACACTGAAGGATGTTTCCCAGCACCAAAGTCTGAGGGCTGCCTCC*GCTCCCCGGATAGGCGACAACTGTATCCAGAAAATCTATCAGGAACTGGCCTTCAGCCGC 11 Beta Hydroxylase CYP11B1 CHAK00354 5 55 Not Confirmed Likely Rare African Coding Tyr Tyr Synonymous 3 TAT TAC M32878 T 0.95 C 0.05 CAAAGTCTGAGGGCTGCCTCCCGCTCCCCGGATAGGCGACAACTGTATCCAGAAAATCTA*CAGGAACTGGCCTTCAGCCGCCCTCAACAGTACACCAGCATCGTGGCGGAGCTCCTGTTG 11 Beta Hydroxylase CYP11B1 CHAK00355 5 72 Not Confirmed Likely Rare U.S. White Coding Ser Asn Nonsynonymous 2 AGC AAC M32878 G 0.95 A 0.05 CTCCCGCTCCCCGGATAGGCGACAACTGTATCCAGAAAATCTATCAGGAACTGGCCTTCA*CCGCCCTCAACAGTACACCAGCATCGTGGCGGAGCTCCTGTTGAATGCGGAACTGTCGCC 11 Beta Hydroxylase CYP11B1 CHAK00356 5 103 Not Confirmed Certain Low Both Coding Ala Ala Synonymous 3 GCG GCA M32878 G 0.9 A 0.1 CCAGAAAATCTATCAGGAACTGGCCTTCAGCCGCCCTCAACAGTACACCAGCATCGTGGC*GAGCTCCTGTTGAATGCGGAACTGTCGCCAGATGCCATCAAGGCCAACTCTATGGAACTC 11 Beta Hydroxylase CYP11B1 CHAK00357 5 107 Confirmed Likely Medium U.S. White Coding Leu Val Nonsynonymous 1 CTC GTC M32878 C 0.8 G 0.2 AAAATCTATCAGGAACTGGCCTTCAGCCGCCCTCAACAGTACACCAGCATCGTGGCGGAG*TCCTGTTGAATGCGGAACTGTCGCCAGATGCCATCAAGGCCAACTCTATGGAACTCACTG 11 Beta Hydroxylase CYP11B1 CHAK00358 7 52 Not Confirmed Likely Rare U.S. White Coding Leu Leu Synonymous 1 CTG TTG M32878 C 0.95 T 0.05 CCAGCTGAGACCCTTTCTATGGATGCCCCCACCTCCAGGCTCTACCCTGTGGGTCTGTTT*TGGAGCGAGTGGCGAGCTCAGACTTGGTGCTTCAGAACTACCACATCCCAGCTGGGGTGA 11 Beta Hydroxylase CYP11B1 CHAK00359 8 144 Not Confirmed Likely Rare U.S. White Coding Tyr His Nonsynonymous 1 TAC CAC M32878 T 0.95 C 0.05 AGGCCTGAGCGCTATAACCCCCAGCGCTGGCTAGACATCAGGGGCTCCGGCAGGAACTTC*ACCACGTGCCCTTTGGCTTTGGCATGCGCCAGTGCCTTGGGCGGCGCCTGGCAGAGGCAG 11 Beta Hydroxylase CYP11B1 CHAK00360 9 16 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A M32879 G 0.95 C 0.05 TCTGAGAAGGCTGCACCACGTCGATGGGCTGCGGACCAAGCCAGATGGAAACCC*GCTTCTGTCCTAGGTGCTGAAACACCTCCAGGTGGAGACACTAACCCAAGAGGACATAAA 11 Beta Hydroxylase CYP11B1 CHAK00361 9 62 Not Confirmed Likely Rare U.S. White Coding Thr Thr Synonymous 3 ACC ACT M32879 C 0.95 T 0.05 CCAGATGGAAACCCGGCTTCTGTCCTAGGTGCTGAAACACCTCCAGGTGGAGACACTAAC*CAAGAGGACATAAAGATGGTCTACAGCTTCATATTGAGGCCCAGCATGTGCCCCCTCCTC 11 Beta Hydroxylase CYP11B1 CHAK00362 9 274 Not Confirmed Likely Low Both 3' UTR N/A N/A N/A 0 N/A N/A M32879 T 0.95 C 0.05 TTCTCTCCCACATGCACAGCTTCCTGAGTCACCCCTCTGTCTAACCAGCCCCAGCACAAA*GGAACTCCCGAGGGCCTCTAGGACCAGGGTTTGCCAGGCTAAGCAGCAATGCCAGGGCAC 11 Beta Hydroxylase CYP11B1 CHAK00363 9 350 Not Confirmed Likely Low U.S. White 3' UTR N/A N/A N/A 0 N/A N/A M32879 T 0.9 G 0.1 CTCTAGGACCAGGGTTTGCCAGGCTAAGCAGCAATGCCAGGGCACAGCTGGGGAAGATCT*GCTGACCTTGTCCCCAGCCCCACCTGGCCCTTTCTCCAGCAAGCACTGTCCTCTGGCAGT 11 Beta Hydroxylase CYP11B1 CHAK00364 9 459 Not Confirmed Certain Medium Both 3' UTR N/A N/A N/A 0 N/A N/A M32879 G 0.75 A 0.25 TCCTCTGGCAGTTTGCCCCCATCCCTCCCAGTGCTGGCTCCAGGCTCCTCGTGTGGCCAT*CAAGGGTGCTGTGGTTTTGTCCCTTGCCTTCCTGCCTCTAGTCTCACATGTCCCTGTTCC 11 Beta Hydroxylase CYP11B1 CHAK00365 9 592 Not Confirmed Likely Low U.S. White 3' UTR N/A N/A N/A 0 N/A N/A M32879 A 0.9 C 0.1 AGGGCCCCTGCGCAGACTGTCAGAGTCATTAAGCGGGATCCCAGCATCTAGAGTCCAGTC*AGTTCCCTCCTGCAGCCTGCCCCCTAGGCAGCTCGAGCATGCCCTGAGCTCTCTGAAAGT 11 Beta Hydroxylase CYP11B1 CHAK00366 9 657 Not Confirmed Certain High Both 3' UTR N/A N/A N/A 0 N/A N/A M32879 G 0.6 A 0.4 CCCTCCTGCAGCCTGCCCCCTAGGCAGCTCGAGCATGCCCTGAGCTCTCTGAAAGTTGTC*CCCTGGAATAGGGTCCTGCAGGGTAGAATAAAAAGGCCCCTGTGGTCACTTGTCCTGACA 11 Beta Hydroxylase CYP11B1 CHAK00367 9 786 Not Confirmed Likely Medium U.S. White 3' UTR N/A N/A N/A 0 N/A N/A M32879 A 0.85 G 0.15 TTCAAGTGATACAACTGAGTCTCGAGGGACGTGTGTTCCCCAGCTGATCGTGTCAGCCTC*TGCCCCTGGCCTCATCTTTCATGGACCAGGCCTTGTTCCAGGAGTGGGCGTTGGGTCCTC 11 Beta Hydroxylase CYP11B1 CHAK00368 9 835 Not Confirmed Certain Medium U.S. White 3' UTR N/A N/A N/A 0 N/A N/A M32879 C 0.8 T 0.2 GTGTCAGCCTCATGCCCCTGGCCTCATCTTTCATGGACCAGGCCTTGTTCCAGGAGTGGG*GTTGGGTCCTCTGCTTCCTGTGCTGTCCCCTGGGGAAGGTCCCAAGGATGCTGTCAGGAG 11 Beta Hydroxylase CYP11B1 CHAK00369 9 879 Not Confirmed Certain High Both 3' UTR N/A N/A N/A 0 N/A N/A M32879 A 0.65 G 0.35 TTGTTCCAGGAGTGGGCGTTGGGTCCTCTGCTTCCTGTGCTGTCCCCTGGGGAAGGTCCC*AGGATGCTGTCAGGAGATGGAAGAGTCATGTGGGGTGGGAACCTGGGGTGTGGTTCCAGA Aldosterone Synthase CYP11B2 CHAK00370 1 163 Not Confirmed Likely Rare U.S. White Promoter N/A N/A N/A 0 N/A N/A D13752 A 0.95 G 0.05 GTCCAGAGCCAGTTCTCCCATGACGTGATATGTTTCCAGAGCAGGTTCCTGGGTGAGATA*AAGGATTTGGGCTGAACAGGGTGGAGGGAGCATTGGAATGGCACTCAGGGCAAAGGCAGA Aldosterone Synthase CYP11B2 CHAK00371 3 20 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A D13752 G 0.95 C 0.05 GATGGGATACGGGTCAGGGCCTGTGTCTTGCTGGGGCGGCCTCACAAGCTCTGCCCTG*CCTCTGTAGGAATGGGCCTGAATGGCGCTTCAACCGATTGCGGCTGAACCCAGATGTGCT Aldosterone Synthase CYP11B2 CHAK00372 3 138 Not Confirmed Likely High Both Coding Phe Phe Synonymous 3 TTC TTT D13752 C 0.7 T 0.3 GCTGTCGCCCAAGGCCGTGCAGAGGTTCCTCCCGATGGTGGATGCAGTGGCCAGGGACTT*TCCCAGGCCCTGAAGAAGAAGGTGCTGCAGAACGCCCGGGGGAGCCTGACCCTGGACGTC Aldosterone Synthase CYP11B2 CHAK00373 3 152 Confirmed Likely High Both Coding Lys Arg Nonsynonymous 2 AAG AGG D13752 A 0.7 G 0.3 CCGTGCAGAGGTTCCTCCCGATGGTGGATGCAGTGGCCAGGGACTTCTCCCAGGCCCTGA*GAAGAAGGTGCTGCAGAACGCCCGGGGGAGCCTGACCCTGGACGTCCAGCCCAGCATCTT Aldosterone Synthase CYP11B2 CHAK00374 3 243 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A D13752 G 0.95 A 0.05 CCTGACCCTGGACGTCCAGCCCAGCATCTTCCACTACACCATAGAAGGTGTGGGCCATGC*GGAAGGTCCAGCCCCAGAGACCCTGGAGTGGCCAGGGATGGGGATGGAGGACTG Aldosterone Synthase CYP11B2 CHAK00375 4 99 Not Confirmed Likely Rare U.S. White Coding Asn Thr Nonsynonymous 2 AAC ACC D13752 A 0.95 C 0.05 TAGCTCTTTTTGGAGAGCGGCTGGGCCTGGTTGGCCACAGCCCCAGTTCTGCCAGCCTGA*CTTCCTCCATGCCCTGGAGGTCATGTTCAAATCCACCGTCCAGCTCATGTTCATGCCCAG Aldosterone Synthase CYP11B2 CHAK00376 4 177 Not Confirmed Likely Rare African Coding Ile Thr Nonsynonymous 2 ATC ACC D13752 T 0.95 C 0.05 AGGTCATGTTCAAATCCACCGTCCAGCTCATGTTCATGCCCAGGAGCCTGTCTCGCTGGA*CAGCCCCAAGGTGTGGAAGGAGCACTTTGAGGCCTGGGACTGCATCTTCCAGTACGGTGA Aldosterone Synthase CYP11B2 CHAK00377 4 250 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A D13752 G 0.95 A 0.05 GTGGAAGGAGCACTTTGAGGCCTGGGACTGCATCTTCCAGTACGGTGAGGCCAGGGACCC*GGCAGTGCTATGGGGAAGGGACACCATGGGGGCCCAATTTCTCCTTCTCCA Aldosterone Synthase CYP11B2 CHAK00378 5 55 Not Confirmed Likely Rare African Coding Tyr Tyr Synonymous 3 TAC TAT D13752 C 0.95 T 0.05 CAAGATCTGAGGGCTGTCCCCTGCTCCCTGGACAGGTGACAACTGTATCCAGAAAATCTA*CAGGAACTGGCCTTCAACCGCCCTCAACACTACACAGGCATCGTGGCGGAGCTCCTGTTG Aldosterone Synthase CYP11B2 CHAK00379 5 72 Not Confirmed Likely Rare African Coding Asn Ser Nonsynonymous 2 AAC AGC D13752 A 0.95 G 0.05 CCCCTGCTCCCTGGACAGGTGACAACTGTATCCAGAAAATCTACCAGGAACTGGCCTTCA*CCGCCCTCAACACTACACAGGCATCGTGGCGGAGCTCCTGTTGAAGGCGGAACTGTCACT Aldosterone Synthase CYP11B2 CHAK00380 5 103 Not Confirmed Certain Low Both Coding Ala Ala Synonymous 3 GCG GCA D13752 G 0.05 A 0.95 CCAGAAAATCTACCAGGAACTGGCCTTCAACCGCCCTCAACACTACACAGGCATCGTGGC*GAGCTCCTGTTGAAGGCGGAACTGTCACTAGAAGCCATCAAGGCCAACTCTATGGAACTC Aldosterone Synthase CYP11B2 CHAK00381 5 121 Not Confirmed Certain Medium African Coding Ala Ala Synonymous 3 GCG GCA D13752 G 0.8 A 0.2 ACTGGCCTTCAACCGCCCTCAACACTACACAGGCATCGTGGCGGAGCTCCTGTTGAAGGC*GAACTGTCACTAGAAGCCATCAAGGCCAACTCTATGGAACTCACTGCAGGGAGCGTGGAC Aldosterone Synthase CYP11B2 CHAK00382 6 91 Confirmed Certain High African Coding Ile Thr Nonsynonymous 2 ATC ACC D13752 T 0.5 C 0.5 CAGCGTTTCCCTTGCTGATGACGCTCTTTGAGCTGGCTCGGAACCCCGACGTGCAGCAGA*CCTGCGCCAGGAGAGCCTGGCCGCCGCAGCCAGCATCAGTGAACATCCCCAGAAGGCAAC Aldosterone Synthase CYP11B2 CHAK00383 6 195 Not Confirmed Likely Medium Both Coding Arg Arg Synonymous 1 AGG CGG D13752 A 0.75 C 0.25 CATCCCCAGAAGGCAACCACCGAGCTGCCCTTGCTGCGGGCGGCCCTCAAGGAGACCTTG*GGTGGGTGCTGGCTGAGGCCTCCCTGTGGCCCTGGCCCCCTGCTGGAGAGCAGCCCCCAC Aldosterone Synthase CYP11B2 CHAK00384 7 52 Confirmed Likely Low Both Coding Leu Leu Synonymous 1 TTG CTG D13752 T 0.95 C 0.05 CAGCTGAGGACCCTTTCTGTGGATGCCCCCACCTCCAGGCTCTACCCTGTGGGTCTGTTT*TGGAGCGAGTGGTGAGCTCAGACTTGGTGCTTCAGAACTACCACATCCCAGCTGGGGTGA Aldosterone Synthase CYP11B2 CHAK00385 7 56 Not Confirmed Likely Rare African Coding Glu Val Nonsynonymous 2 GAG GTG D13752 A 0.95 T 0.05 TGAGGACCCTTTCTGTGGATGCCCCCACCTCCAGGCTCTACCCTGTGGGTCTGTTTTTGG*GCGAGTGGTGAGCTCAGACTTGGTGCTTCAGAACTACCACATCCCAGCTGGGGTGAGTGA Aldosterone Synthase CYP11B2 CHAK00386 7 65 Confirmed Likely Low U.S. White Coding Val Ala Nonsynonymous 2 GTG GCG D13752 T 0.9 C 0.1 TTTCTGTGGATGCCCCCACCTCCAGGCTCTACCCTGTGGGTCTGTTTTTGGAGCGAGTGG*GAGCTCAGACTTGGTGCTTCAGAACTACCACATCCCAGCTGGGGTGAGTGAGCCCCACAC Aldosterone Synthase CYP11B2 CHAK00387 7 78 Not Confirmed Certain Medium African Coding Leu Leu Synonymous 3 TTG TTA D13752 G 0.85 A 0.15 CCCCACCTCCAGGCTCTACCCTGTGGGTCTGTTTTTGGAGCGAGTGGTGAGCTCAGACTT*GTGCTTCAGAACTACCACATCCCAGCTGGGGTGAGTGAGCCCCACACCCCTCGAGCTGAG Aldosterone Synthase CYP11B2 CHAK00388 8 18 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A D13752 C 0.95 T 0.05 CCACACCCCTCGAGCTGAGAACCTCCCTCCCCAGTCATTCCCTGATCCCTGCTCTG*ACCGTCCGCAGACATTGGTACAGGTTTTCCTCTACTCGCTGGGTCGCAATGCCGCCTTGT Aldosterone Synthase CYP11B2 CHAK00389 8 37 Not Confirmed Likely Rare African Coding Val Glu Nonsynonymous 2 GTA GAA D13752 T 0.95 A 0.05 TGAGAACCTCCCTCCCCAGTCATTCCCTGATCCCTGCTCTGCACCGTCCGCAGACATTGG*ACAGGTTTTCCTCTACTCGCTGGGTCGCAATGCCGCCTTGTTCCCGAGGCCTGAGCGGTA Aldosterone Synthase CYP11B2 CHAK00390 8 132 Not Confirmed Likely Rare U.S. White Coding Gly Ser Nonsynonymous 1 GGC AGC D13752 G 0.95 A 0.05 GCCTTGTTCCCGAGGCCTGAGCGGTATAATCCCCAGCGCTGGCTAGACATCAGGGGCTCC*GCAGGAACTTCCACCACGTGCCCTTTGGCTTTGGCATGCGCCAGTGCCTCGGGCGGCGCC Aldosterone Synthase CYP11B2 CHAK00391 8 182 Not Confirmed Likely Rare African Coding Leu Leu Synonymous 3 CTC CTT D13752 C 0.95 T 0.05 CAGGGGCTCCGGCAGGAACTTCCACCACGTGCCCTTTGGCTTTGGCATGCGCCAGTGCCT*GGGCGGCGCCTGGCAGAGGCAGAGATGCTGCTGCTGCTGCACCACGTAAGCAGGCCTGGG Aldosterone Synthase CYP11B2 CHAK00392 9 90 Not Confirmed Likely Rare U.S. White Coding Phe Val Nonsynonymous 1 TTC GTC D13752 T 0.95 G 0.05 GTGCTGAAGCACTTCCTGGTGGAGACACTAACTCAAGAGGACATAAAGATGGTCTACAGC*TCATATTGAGGCCTGGCACGTCCCCCCTCCTCACTTTCAGAGCGATTAACTAGTCTTGCA Aldosterone Synthase CYP11B2 CHAK00393 9 224 Confirmed Likely Medium U.S. White 3' UTR N/A N/A N/A 0 N/A N/A D13752 G 0.9 A 0.1 TCCCAGCCTGGCCACCAGCTTCCCTCTGCCTGACCCCAGGCCACCTGTCTTCTCTCCCAC*TGCACAGCTTCCTGAGTCACCCCTCTGTCCAGCCAGCTCCTGCACAAATGGAACTCCCCA Aldosterone Synthase CYP11B2 CHAK00944 N/A -344 Circulation 1998 Feb 17;97(6):569-575 N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A C N/A T N/A TTGATCAATTTTGCAATGAACTAAATCTGTGGTATAAAAATAAAGTCTATTAAAAGAATCCAAGGC*CCCTCTCATCTCACGATAAGATAAAGTCCCCATCCATTTTACTCCTCTCAGCCCTGGAGAAAGGA "Cytochrome P450, Subfamily IIA" CYP2A CHAK00945 N/A 35 Blast-multiple CYP2A alleles M33318 N/A N/A Literature Search Unknown N/A N/A N/A 0 N/A N/A N/A G N/A A N/A ATGGTCTTGATGTCTGTTTGGCAGCAGAGGAAGA*CAAGGGGAAGCTGCCTCCGGGACCCACCCCATTGCCCTTCATTGGAAACTACCTGCAGCT "Cytochrome P450, Subfamily IIA" CYP2A CHAK00946 N/A 429 Blast-multiple CYP2A alleles M33318 N/A N/A Literature Search Unknown N/A N/A N/A 0 N/A N/A N/A T N/A A N/A TTCGGGGTGGGCAAGCGAGGCATCGAGGAGCGCATCCAGGAGGAGGCGGGCTTCCTCATCGACGCCC*CCGGGGCACTGGCGGCGCCAATATCGATCCCACCTTCTTCCTGAGCCGCACAGTCTCCAA "Cytochrome P450, Subfamily IIA" CYP2A CHAK00947 N/A 713 Blast-multiple CYP2A alleles M33318 N/A N/A Literature Search Unknown N/A N/A N/A 0 N/A N/A N/A C N/A A N/A GCCTTTCAGTTGCTGCAAGGGCTGGAGGACTTCATAGCCAAGAAGGTGGAGCACAA*CAGCGCACGCTGGATCCCAATTCCCCACGGGACTTCATTGACTCCTTTCTCATC "Cytochrome P450, Subfamily IIA" CYP2A CHAK00948 N/A 925 Blast-multiple CYP2A alleles M33318 N/A N/A Literature Search Unknown N/A N/A N/A 0 N/A N/A N/A A N/A C N/A GCACCACCCTGCGCTATGGCTTCTTGCTGCTCATGAAGCACCCAGAGGTGGAGGCC*AGGTCCATGAGGAGATTGACAGAGTGATCGGCAAGAACCGGCAGCCCAAGTTTGAGGAC "Cytochrome P450, Subfamily IIA" CYP2A CHAK00949 N/A 1107 Blast-multiple CYP2A alleles M33318 N/A N/A Literature Search Unknown N/A N/A N/A 0 N/A N/A N/A C N/A T N/A ATCCCCATGAGTTTGGCCCGCAGAGTCAAAAAGGACACCAAGTTTCGGGATTTCTTCCTCC*TAAGGGCACCGAAGTGTACCCTATGCTGGGCTCTGTGCTGAGAGACCCCAGTTTCTTCT "Cytochrome P450, Subfamily IIA" CYP2A CHAK00950 N/A 1586 Blast-multiple CYP2A alleles M33318 N/A N/A Literature Search Unknown N/A N/A N/A 0 N/A N/A N/A G N/A C N/A GGGGGCAGGATGGCGGAAAGGAAGGGGCGTGGTGGCTAGAGGGAAGAGAAGAAACAGAAG*GGCTCAGTTCACCTTGATAAGGTGCTTCCGAGCTGGGATGAGAGGAAGGAAACCCTTAC "Cytochrome P450, Subfamily IIIA, Polypeptide 4" CYP3A4 CHAK00951 N/A 1361 Blast-multiple CYP3A alleles X12387 N/A N/A Literature Search Unknown N/A N/A N/A 0 N/A N/A N/A T N/A C N/A CAGAGCCTGAGAAGTTCCTCCCTGAAAGATTCAGCAAGAAGAACAAGGACAACATAGATCCTTACA*ATACACACCCTTTGGAAGTGGACCCAGAAACTGCATTGGCATGAGGTTTGCTCTCATGAACATGAAACTT Dopamine Beta Hydroxylase DBH CHAK00394 1 152 Confirmed Likely Rare African 5' UTR N/A N/A N/A 0 N/A N/A X13257 G 0.95 A 0.05 GGTGGGACCAGAGAGCTCACCCCAGCCATGCCCGCCCTCAGTCGCTGGGCCAGCCTGCCC*GCCCCAGCATGCGGGAGGCAGCCTTCATGTACAGCACAGCAGTGGCCATCTTCCTGGTCA Dopamine Beta Hydroxylase DBH CHAK00395 3 63 Not Confirmed Likely Rare U.S. White Coding Glu Gln Nonsynonymous 1 GAG CAG X13259 G 0.95 C 0.05 CTGCAGGACGGCACTGTCCACTTGGTCTACGGGATCCTGGAGGAGCCGTTCCGGTCACTG*AGGCCATCAACGGCTCGGGCCTGCAGATGGGGCTGCAGAGGGTGCAGCTCCTGAAGCCCA Dopamine Beta Hydroxylase DBH CHAK00396 3 153 Not Confirmed Certain Low Both Coding Ala Thr Nonsynonymous 1 GCG ACG X13259 G 0.9 A 0.1 GGGCTGCAGAGGGTGCAGCTCCTGAAGCCCAATATCCCCGAACCGGAGTTGCCCTCAGAC*CGTGCACCATGGAGGTCCAAGCTCCCAATATCCAGATCCCCAGCCAGGAGACCACGTACT Dopamine Beta Hydroxylase DBH CHAK00397 3 239 Not Confirmed Likely Rare U.S. White Coding Lys Asn Nonsynonymous 3 AAG AAC X13259 G 0.95 C 0.05 CAATATCCAGATCCCCAGCCAGGAGACCACGTACTGGTGCTACATTAAGGAGCTTCCAAA*GGCTTCTCTCGGCACCACATTATCAAGGTACGTGCG Dopamine Beta Hydroxylase DBH CHAK00398 3 257 Not Confirmed Likely Rare African Coding His His Synonymous 3 CAC CAT X13259 C 0.95 T 0.05 CCAGGAGACCACGTACTGGTGCTACATTAAGGAGCTTCCAAAGGGCTTCTCTCGGCACCA*ATTATCAAGGTACGTGCG Dopamine Beta Hydroxylase DBH CHAK00399 4 12 Not Confirmed Likely Rare U.S. White Coding Glu Gln Nonsynonymous 1 GAG CAG X13260 G 0.95 C 0.05 TCCTCACAGTAC*AGCCCATCGTCACCAAGGGCAATGAGGCCCTTGTCCACCACATGGAAGTCTTCCAGTGCGCCCCCGAGATGGACAGCGTCCCCCACTTCAGCGGGCC Dopamine Beta Hydroxylase DBH CHAK00400 4 132 Not Confirmed Likely Low African Coding Asp Asn Nonsynonymous 1 GAC AAC X13260 G 0.95 A 0.05 GCCCCCGAGATGGACAGCGTCCCCCACTTCAGCGGGCCCTGCGACTCCAAGATGAAACCC*ACCGCCTCAACTACTGCCGCCACGTGCTGGCCGCCTGGGCCCTGGGTGCCAAGGTGCGTG Dopamine Beta Hydroxylase DBH CHAK00401 5 37 Not Confirmed Likely Rare U.S. White Coding Leu Pro Nonsynonymous 2 CTT CCT X13261 T 0.95 C 0.05 CCCACACAGGCATTTTACTACCCAGAGGAAGCCGGCC*TGCCTTCGGGGGTCCAGGGTCCTCCAGATATCTCCGCCTGGAAGTTCACTACCACAACCCACTGGTGATAGAAGGTAGGCGGC Dopamine Beta Hydroxylase DBH CHAK00402 5 39 Confirmed Likely Low Both Coding Ala Ser Nonsynonymous 1 GCC TCC X13261 G 0.9 T 0.1 CCCACACAGGCATTTTACTACCCAGAGGAAGCCGGCCTT*CCTTCGGGGGTCCAGGGTCCTCCAGATATCTCCGCCTGGAAGTTCACTACCACAACCCACTGGTGATAGAAGGTAGGCGGC Angiotensin Converting Enzyme DCP1 CHAK00015 13 138 Confirmed Likely High Both Coding Pro Pro Synonymous 3 CCC CCT "M73275, M26657" C 0.7 T 0.3 GTTGGGCTACTGCAGGACTTCCCAGCCTCCTCTTCCTGCTGCTCTGCTACGGGCACCCTCTGCTGGTCCC*AGCCAGGAGGCATCCCAACAGGTGACAGTCACCCATGGGACAAGCAGCCAGGCAACAACCAGCAGCCAGA Angiotensin Converting Enzyme DCP1 CHAK00016 13 151 Confirmed Likely Medium African Coding Ser Pro Nonsynonymous 1 TCT CCT "M73275, M26657" T 0.75 C 0.25 AGGACTTCCCAGCCTCCTCTTCCTGCTGCTCTGCTACGGGCACCCTCTGCTGGTCCCCAGCCAGGAGGCA*CCCAACAGGTGACAGTCACCCATGGGACAAGCAGCCAGGCAACAACCAGCAGCCAGACAACCACCCACCA Angiotensin Converting Enzyme DCP1 CHAK00017 13 202 Confirmed Certain Medium African Coding Ser Gly Nonsynonymous 1 AGC GGC "M73275, M26657" A 0.75 G 0.25 GGTCCCCAGCCAGGAGGCATCCCAACAGGTGACAGTCACCCATGGGACAAGCAGCCAGGCAACAACCAGC*GCCAGACAACCACCCACCAGGCGACGGCCCACCAGACATCAGCCCAGAGCCCAAACCTGGTGACTGATGA Angiotensin Converting Enzyme DCP1 CHAK00018 15 144 Confirmed Certain Medium U.S. White Coding Ala Ala Synonymous 3 GCG GCA J04144 G 0.8 A 0.2 ATGTGAACCAGTTGCAGAACACCACTATCAAGCGGATCATAAAGAAGGTTCAGGACCTAGAACGGGCAGC*CTGCCTGCCCAGGAGCTGGAGGAGTACAACAAGATCCTGTTGGATATGGAAACCACCTACAGCGTGGC Angiotensin Converting Enzyme DCP1 CHAK00019 17 19 Confirmed Likely High Both Intron N/A N/A N/A 0 N/A N/A "J04144, A28005" C 0.55 A 0.45 CTCTGAGCTCCCCTTACAAGCAGAGGTGAGCTAAGGGCTGGAGCTCAAGCCATTCAA*CCCCTACCAGATCTGACGAATGTGATGGCCACATCCCGGAAATATGAAGACCTGTTATGGGCATGGGAGG Angiotensin Converting Enzyme DCP1 CHAK00020 17 52 Confirmed Certain High Both Coding Thr Thr Synonymous 3 ACA ACG "J04144, A28005" A 0.5 G 0.5 CAGAGGTGAGCTAAGGGCTGGAGCTCAAGCCATTCAACCCCCTACCAGATCTGACGAATGTGATGGCCAC*TCCCGGAAATATGAAGACCTGTTATGGGCATGGGAGGGCTGGCGAGACAAGGCGGGGAGAGCCATCCTCC Angiotensin Converting Enzyme DCP1 CHAK00021 18 130 Confirmed Likely Rare Both Coding Leu Leu Synonymous 3 CTC CTG "J04144, A28005" C 0.95 G 0.05 CTATGTACGAGACACCATCCCTGGAGCAAGACCTGGAGCGGCTCTTCCAGGAGCTGCAGCCACTCTACCT*AACCTGCATGCCTACGTGCGCCGGGCCCTGCACCGTCACTACGGGGCCCAGCACATCAACCTGGAGGGGC Angiotensin Converting Enzyme DCP1 CHAK00022 21 150 Confirmed Likely Rare African Coding Ile Thr Nonsynonymous 2 ATT ACT J04144 T 0.95 C 0.05 TATTTCATGCAGTACAAAGACTTACCTGTGGCCTTGAGGGAGGGTGCCAACCCCGGCTTCCATGAGGCCA*TGGGGACGTGCTAGCCCTCTCAGTGTCTACGCCCAAGCACCTGCACAGTCTCAACCTGCTGAGCAGTGAG Angiotensin Converting Enzyme DCP1 CHAK00023 22 19 Confirmed Likely Rare U.S. White Coding Phe Val Nonsynonymous 1 TTT GTT J04144 T 0.95 G 0.05 CTGCACAGTCTCAACCTGCTGAGCAGTGAGGGTGGCAGCGACGAGCATGACATCAAC*TTCTGATGAAGATGGCCCTTGACAAGATCGCCTTTATCCCCTTCAGCTACCTCGTCGATCAGTGGCGCTG Angiotensin Converting Enzyme DCP1 CHAK00024 24 16 Confirmed Likely High Both Coding Phe Phe Synonymous 3 TTT TTC J04144 T 0.45 C 0.55 TGACCCAGGGGCCAAGTTCCACATTCCTTCTAGCGTGCCTTACATCAGGTACTT*GTCAGCTTCATCATCCAGTTCCAGTTCCACGAGGCACTGTGCCAGGCAGCTGGCCACACGGGCCCCCTGC Angiotensin Converting Enzyme DCP1 CHAK00025 24 118 Confirmed Likely Rare African Coding Ala Ala Synonymous 3 GCC GCT J04144 C 0.95 T 0.05 AGGCACTGTGCCAGGCAGCTGGCCACACGGGCCCCCTGCACAAGTGTGACATCTACCAGTCCAAGGAGGC*GGGCAGCGCCTGGCGACCGCCATGAAGCTGGGCTTCAGTAGGCCGTGGCCGGAAGCC Angiotensin Converting Enzyme DCP1 CHAK00026 26 154 Confirmed Likely Rare African Coding Arg Gln Nonsynonymous 2 CGG CAG "J04144, X94360" G 0.95 A 0.05 CGCGTGGGCCAGTGGCTGCTGCTCTTCCTGGGCATCGCCCTGCTGGTAGCCACCCTGGGCCTCAGCCAGC*GCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAGGTGGAG Angiotensin Converting Enzyme DCP1 CHAK00027 26 174 Confirmed Certain Low African Coding Arg Ser Nonsynonymous 1 CGC AGC "J04144, X94360" C 0.9 A 0.1 GCTCTTCCTGGGCATCGCCCTGCTGGTAGCCACCCTGGGCCTCAGCCAGCGGCTCTTCAGCATCCGCCAC*GCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAGGTGGAGCTGAGACACTCCTGAGGTGA Angiotensin Converting Enzyme DCP1 CHAK00028 26 205 Confirmed Likely N/A U.S. White Coding Gln Pro Nonsynonymous 2 CAG CCG "J04144, X94360" A N/A C N/A ACCCTGGGCCTCAGCCAGCGGCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCC*GTTCGGCTCCGAGGTGGAGCTGAGACACTCCTGAGGTGACCCGGCTGGGTCGGCCCTGCCCAAGGGCCTC Angiotensin Converting Enzyme DCP1 CHAK00029 26 224 Confirmed Likely Low U.S. White Coding Glu Glu Synonymous 3 GAG GAA "J04144, X94360" G 0.95 A 0.05 GGCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTCCCACGGGCCCCAGTTCGGCTCCGAGGTGGA*CTGAGACACTCCTGAGGTGACCCGGCTGGGTCGGCCCTGCCCAAGGGCCTCCCACCAGAGACTGGGATGG Angiotensin Converting Enzyme DCP1 CHAK00910 Promoter -5491 "AmJHumGenet 58:1268-1278,1996" N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A T N/A C N/A CAGAACATTTCACTACCCCTAAAAGAAACCCCATACCACAGATTCCGATGCCGCCGGGAGCCCTG*CATGCCATGTCACATATATTATAGTATATATATGCCCAGCCATGGTCAACCCACCGTGTTCTTTG Angiotensin Converting Enzyme DCP1 CHAK00911 Promoter -5466 "AmJHumGenet 58:1268-1278,1996" N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A A N/A C N/A ATACCACAGATTCCGATGCCGCCGGGAGCCCTGTCATGCCATGTCACATATATTATAGTATAT*TATGCCCAGCCATGGTCAACCCACCGTGTTCTTTGACATCACCATCAACAGCAAGCCCTTGGGCC Angiotensin Converting Enzyme DCP1 CHAK00912 Promoter -3892 "AmJHumGenet 58:1268-1278,1996" N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A T N/A C N/A TCTTCAATTTCAGGCATCCATTGAGAGTCTTGGAATGTACCCACTGAGGATAAGGGGGGG*TGCTGTACATACTTTGCAAATATCTTCTCTCATCCCATGGGTTGTCTTTTCATTTTCTTTCTTT Angiotensin Converting Enzyme DCP1 CHAK00913 Promoter -240 "AmJHumGenet 58:1268-1278,1996" N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A T N/A A N/A GCTGCGCGGCCGCACGGTGGGCAGGCTCGGGTGTTCCGGCAAACTGCCGGGTCCCCATCTTC*AAAGAGAGGAGGCCCTTTCTCCAGCTTCCTCTGCGGGAGCCCGACCCAGCCCCATCCCGCC Angiotensin Converting Enzyme DCP1 CHAK00914 Promoter -93 "AmJHumGenet 58:1268-1278,1996" N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A T N/A C N/A CCGGCCCGCGCCCCTGCCCGGGGCGGGCCAGGAACCTCGGCCCGCGCCGCTGGGGACT*TGGAGCGGAGGAGGAAGCGCGGCGGGGCGGGGGCGGGGGTGTGTCGGGTTTTATAACC Angiotensin Converting Enzyme DCP1 CHAK00915 8 106 WIAF-1325 N/A N/A Literature Search Coding Pro Pro Synonymous 3 CCC CCT J04144 C N/A T N/A GATCAAGCAGTGCACACGGGTCACGATGGACCAGCTCTCCACAGTGCACCATGAGATGGGCCATATACAGTACTACCTGCAGTACAAGGATCTGCC*GTCTCCCTGCGTCGGGGGGCCAACCCCGGCTTCCATGAGGCCATTGGGGACGTGCTGGCGCTCTCGGTCTCCACTCCTGAACATCTGCACAAAATCGGCCTGC Dopamine Receptor D1 DRD1 CHAK00403 N/A 76 Confirmed Likely Rare African Promoter N/A N/A N/A 0 N/A N/A X55758 G 0.95 A 0.05 CATGGAATGTTGGTGAGGCCCTCTGCCAGGGAAGCAATCTGGCTGTGCAAAGTGCTGCCT*GTGGGGAGGACTCCTGGAAATCTGACTGACCCCTATTCCCTGCTTAGGAACTTGAGGGGT Dopamine Receptor D1 DRD1 CHAK00404 N/A 122 Confirmed Certain Medium Both Promoter N/A N/A N/A 0 N/A N/A X55758 A 0.85 G 0.15 GCAAAGTGCTGCCTGGTGGGGAGGACTCCTGGAAATCTGACTGACCCCTATTCCCTGCTT*GGAACTTGAGGGGTGTCAGAGCCCCTGATGTGCTTTCTCTTAGGAAGATGAGGACTCTGA Dopamine Receptor D1 DRD1 CHAK00405 N/A 278 Not Confirmed Likely Rare African Coding Thr Pro Nonsynonymous 1 ACG CCG X55758 A 0.95 C 0.05 GAGAGGGACTTCTCTGTTCGTATCCTCACTGCCTGTTTCCTATCGCTGCTCATCCTGTCC*CGCTCCTGGGGAACACGCTGGTCTGTGCTGCCGTTATCAGGTTCCGACACCTGCGGTCCA Dopamine Receptor D1 DRD1 CHAK00406 N/A 279 Not Confirmed Likely Rare African Coding Thr Arg Nonsynonymous 2 ACG AGG X55758 C 0.95 G 0.05 AGAGGGACTTCTCTGTTCGTATCCTCACTGCCTGTTTCCTATCGCTGCTCATCCTGTCCA*GCTCCTGGGGAACACGCTGGTCTGTGCTGCCGTTATCAGGTTCCGACACCTGCGGTCCAA Dopamine Receptor D1 DRD1 CHAK00407 N/A 310 Not Confirmed Likely Rare African Coding Ala Ala Synonymous 3 GCC GCG X55758 C 0.95 G 0.05 CTGTTTCCTATCGCTGCTCATCCTGTCCACGCTCCTGGGGAACACGCTGGTCTGTGCTGC*GTTATCAGGTTCCGACACCTGCGGTCCAAGGTGACCAACTTCTTTGTCATCTCCTTGGCT Dopamine Receptor D1 DRD1 CHAK00408 N/A 319 Not Confirmed Likely Rare African Coding Arg Ser Nonsynonymous 3 AGG AGT X55758 G 0.95 T 0.05 ATCGCTGCTCATCCTGTCCACGCTCCTGGGGAACACGCTGGTCTGTGCTGCCGTTATCAG*TTCCGACACCTGCGGTCCAAGGTGACCAACTTCTTTGTCATCTCCTTGGCTGTGTCAGAT Dopamine Receptor D1 DRD1 CHAK00409 N/A 764 Not Confirmed Likely Rare African Coding Ser Ala Nonsynonymous 1 TCT GCT X55758 T 0.95 G 0.05 CTGGCTGAGACCATAGACAACTGTGACTCCAGCCTCAGCAGGACATATGCCATCTCATCC*CTGTAATAAGCTTTTACATCCCTGTGGCCATCATGATTGTCACCTACACCAGGATCTACA Dopamine Receptor D1 DRD1 CHAK00410 N/A 1521 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A X55758 G 0.95 A 0.05 CTCTGGAGAAGATCCAACCCATCACACAAAACGGTCAGCACCCAACCTGAACTCGCAGAT*AATCCTGCCACACATGCTCATCCCAAAAGCTAGAGGAGATTGCTCTGGGGTTT Endothelin 1 EDN1 CHAK00448 3 114 Not Confirmed Likely Medium Both Coding Glu Glu Synonymous 3 GAG GAA J05008 G 0.85 A 0.15 AAGCCCTAGGTCCAAGAGAGCCTTGGAGAATTTACTTCCCACAAAGGCAACAGACCGTGA*AATAGATGCCAATGTGCTAGCCAAAAAGACAAGAAGTGCTGGAATTTTTGCCAAGCAGGA Endothelin 1 EDN1 CHAK00449 5 90 Confirmed Certain Medium Both Coding Lys Asn Nonsynonymous 3 AAG AAT Z98050 G 0.75 T 0.25 GTCGGAGACCATGAGAAACAGCGTCAAATCATCTTTTCATGATCCCAAGCTGAAAGGCAA*CCCTCCAGAGAGCGTTATGTGACCCACAACCGAGCACATTGGTGACAGACCTTCGGGGCC Endothelin 2 EDN2 CHAK00887 N/A 440 Not Confirmed Likely N/A cDNA Coding Phe Leu Nonsynonymous 1 TTC CTC M65199 T N/A C N/A CTTCGAAGGCCCTGGACTGAAGCCGGGGCAGTCCCAAGCCGGAAGTCCCCTGCAGACGTG*TCCAGACTGGCAAGACAGGGGCCACTACAGGAGAGCTTCTCCAAAGGCTGAGGGACATTT Endothelin 2 EDN2 CHAK00888 N/A 556 Not Confirmed Likely N/A cDNA Coding Arg Arg Synonymous 3 CGG CGA M65199 G N/A A N/A CATTTCCACAGTCAAGAGCCTCTTTGCCAAGCGACAACAGGAGGCCATGCGGGAGCCTCG*TCCACACATTCCAGGTGGAGGAAGAGATAGTGTCGTGAGCTGGAGGAACATTGGGAAGGA Endothelin 2 EDN2 CHAK00889 N/A 976 Not Confirmed Certain N/A cDNA 3' UTR N/A N/A N/A 0 N/A N/A M65199 A N/A G N/A GGCTACAAACCAGGAGCAACCGTGCAGCCACGAACACGCATGCCTCAGCCAGCCCTGGAG*CTGGATGGCTCCCCTGAGGCTGGCATCCTGGCTGGCTGTGTCCTCTCCAGCTTTCCCTCC "Endothelin Receptor, Type A" EDNRA CHAK00411 6 88 Confirmed Certain High Both Coding His His Synonymous 3 CAC CAT D11149 C 0.55 T 0.45 AGTGGCAAAAACAGTTTTCTGCTTGGTTGTAATTTTTGCTCTTTGCTGGTTCCCTCTTCA*TTAAGCCGTATATTGAAGAAAACTGTGTATAACGAAATGGACAAGAACCGATGTGAATTA "Endothelin Receptor, Type A" EDNRA CHAK00412 6 124 Confirmed Certain High Both Coding Glu Glu Synonymous 3 GAA GAG D11149 A 0.5 G 0.5 TGCTCTTTGCTGGTTCCCTCTTCACTTAAGCCGTATATTGAAGAAAACTGTGTATAACGA*ATGGACAAGAACCGATGTGAATTACTTAGGTATGATCCTGTGTACTCGC "Endothelin Receptor, Type A" EDNRA CHAK00413 8 228 Confirmed Certain High Both 3' UTR N/A N/A N/A 0 N/A N/A D11151 C 0.65 G 0.35 GAAGCACTCCTCGGTACTCCCATAATCCTCTCGGAGAAAAAAATCACAAGGCAACTGTGA*TCCGGGAATCTCTTCTCTGATCCTTCTTCCTTAATTCACTCCCACACCCAAGAAGAAATG "Endothelin Receptor, Type A" EDNRA CHAK00414 8 295 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D11151 A 0.95 G 0.05 AATCTCTTCTCTGATCCTTCTTCCTTAATTCACTCCCACACCCAAGAAGAAATGCTTTCC*AAACCGCAAGGTAGACTGGTTTATCCACCCACAACATCTACGAATCGTACTTCTTTAATT "Endothelin Receptor, Type A" EDNRA CHAK00415 8 622 Not Confirmed Likely High Both 3' UTR N/A N/A N/A 0 N/A N/A D11151 G 0.3 A 0.7 AAGATTTTCTACTTTTTTTAAGTGATTTTTTGTCCTTCAGCCAAACACAATATGGGCTCA*GTCACTTTTATTTGAAATGTCATTTGGTGCCAGTATTTTTTAACTGCATAATAGCCTAAC "Endothelin Receptor, Type A" EDNRA CHAK00416 8 655 Not Confirmed Likely Rare U.S. White 3' UTR N/A N/A N/A 0 N/A N/A D11151 G 0.95 A 0.05 CCTTCAGCCAAACACAATATGGGCTCAGGTCACTTTTATTTGAAATGTCATTTGGTGCCA*TATTTTTTAACTGCATAATAGCCTAACATGATTATTTGAACTTATTTACACATAGTTTGA "Endothelin Receptor, Type A" EDNRA CHAK00417 8 788 Not Confirmed Likely Medium African 3' UTR N/A N/A N/A 0 N/A N/A D11151 A 0.8 G 0.2 AAAAATAGTATTCAGGTGAGCAATTAGATTAGTATTTTCCACGTCACTATTTATTTTTTT*AAACACAAATTCTAAAGCTACAACAAATACTACAGGCCCTTAAAGCACAGTCTGATGACA "Endothelin Receptor, Type A" EDNRA CHAK00418 8 950 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A D11151 T 0.95 C 0.05 GAACTGTATTTTATTTTTTAAATGGTGTTTTATTACAAGGGACCTTGAACATGTTTTGTA*GTTAAATTCAAAAGTAATGCTTCAATCAGATAGTTCTTTTTCACAAGTTCAATCTGTTTT "Endothelin Receptor, Type A" EDNRA CHAK00419 8 985 Not Confirmed Certain Low Both 3' UTR N/A N/A N/A 0 N/A N/A D11151 T 0.9 C 0.1 CAAGGGACCTTGAACATGTTTTGTATGTTAAATTCAAAAGTAATGCTTCAATCAGATAGT*CTTTTTCACAAGTTCAATCTGTTTTTCATGTAAATTTTGTATGAAAAATCAATGTCAAGT "Endothelin Receptor, Type A" EDNRA CHAK00420 8 1157 Not Confirmed Certain High Both 3' UTR N/A N/A N/A 0 N/A N/A D11151 G 0.7 A 0.3 ACTGTATATAGAAGTCTAAAACACACCTAAGAGAAAAAGATCGAATTTTTCAGATGATTC*GAAATTTTCATTCAGGTATTTGTAATAGTGACATATATATGTATATACATATCACCTCCT "Endothelin Receptor, Type A" EDNRA CHAK00421 8 1380 Confirmed Certain Medium Both 3' UTR N/A N/A N/A 0 N/A N/A D11151 C 0.75 T 0.25 TCATGTCAGTGAAAAATAATTACCCACAAATGCCACCAGTAACTTAACGATTCTTCACTT*TTGGGGTTTTCAGTATGAACCTAACTCCCCACCCCAACATCTCCCTCCCACATTGTCACC "Endothelin Receptor, Type A" EDNRA CHAK00422 8 1687 Not Confirmed Likely Medium African 3' UTR N/A N/A N/A 0 N/A N/A D11151 A 0.75 G 0.25 GATGGTATGTATGGATTTAATCTAATCTAATAATTGTGCCCCGCAGTTGTGCCAAAGTGC*TAGTCTGAGCTAAAATCTAGGTGATTGTTCATCATGACAACCTGCCTCAGTCCATTTTAA "Endothelin Receptor, Type B" EDNRB CHAK00423 1 33 Not Confirmed Likely Rare African Coding Leu Gln Nonsynonymous 2 CTG CAG D13162 T 0.95 A 0.05 TGCGGAGCGGCCACCGGACGCCTTCTGGAGCAGGTAGCAGCATGCAGCCGCCTCCAAGTC*GTGCGGACGCGCCCTGGTTGCGCTGGTTCTTGCCTGCGGCCTGTCGCGGATCTGGGGAGA "Endothelin Receptor, Type B" EDNRB CHAK00424 1 62 Confirmed Likely Rare African Coding Leu Phe Nonsynonymous 1 CTT TTT D13162 C 0.95 T 0.05 GCAGGTAGCAGCATGCAGCCGCCTCCAAGTCTGTGCGGACGCGCCCTGGTTGCGCTGGTT*TTGCCTGCGGCCTGTCGCGGATCTGGGGAGAGGAGAGAGGCTTCCCGCCTGACAGGGCCA "Endothelin Receptor, Type B" EDNRB CHAK00425 1 347 Not Confirmed Likely Rare African Coding Phe Val Nonsynonymous 1 TTC GTC D13162 T 0.95 G 0.05 GGACCCATCGAGATCAAGGAGACTTTCAAATACATCAACACGGTTGTGTCCTGCCTTGTG*TCGTGCTGGGGATCATCGGGAACTCCACACTTCTGAGAATTATCTACAAGAACAAGTGCA "Endothelin Receptor, Type B" EDNRB CHAK00426 2 78 Confirmed Likely Rare African Coding Ser Ser Synonymous 3 TCC TCT D13163 C 0.95 T 0.05 AGAGGACTGGCCATTTGGAGCTGAGATGTGTAAGCTGGTGCCTTTCATACAGAAAGCCTC*GTGGGAATCACTGTGCTGAGTCTATGTGCTCTGAGTATTGACAGGTAGAAGCTT "Endothelin Receptor, Type B" EDNRB CHAK00427 2 87 Confirmed Likely Rare Both Coding Ile Ile Synonymous 3 ATC ATT D13163 C 0.95 T 0.05 GCCATTTGGAGCTGAGATGTGTAAGCTGGTGCCTTTCATACAGAAAGCCTCCGTGGGAAT*ACTGTGCTGAGTCTATGTGCTCTGAGTATTGACAGGTAGAAGCTT "Endothelin Receptor, Type B" EDNRB CHAK00428 3 144 Confirmed Likely Low African Coding Thr Met Nonsynonymous 2 ACG ATG D13164 C 0.95 T 0.05 TGATTTGGGTGGTCTCTGTGGTTCTGGCTGTCCCTGAAGCCATAGGTTTTGATATAATTA*GATGGACTACAAAGGAAGTTATCTGCGAATCTGCTTGCTTCATCCCGTTCAGAAGACAGC "Endothelin Receptor, Type B" EDNRB CHAK00429 4 39 Confirmed Certain Medium Both Coding Leu Leu Synonymous 3 CTG CTA D13165 G 0.75 A 0.25 ATCCCTATAGTTTTACAAGACAGCAAAAGATTGGTGGCT*TTCAGTTTCTATTTCTGCTTGCCATTGGCCATCACTGCATTTTTTTATACACTAATGACCTGTGAAATGTTGAGAAAGAAA "Endothelin Receptor, Type B" EDNRB CHAK00430 4 122 Confirmed Likely Rare U.S. White Coding Ser Asn Nonsynonymous 2 AGT AAT D13165 G 0.95 A 0.05 CATTGGCCATCACTGCATTTTTTTATACACTAATGACCTGTGAAATGTTGAGAAAGAAAA*TGGCATGCAGATTGCTTTAAATGATCACCTAAAGCAGGTAAGAAAAT Fibroblast Growth Factor Receptor 2 FGFR2 CHAK00958 N/A N/A WIAF-1201 N/A N/A Literature Search Unknown N/A N/A N/A 0 N/A N/A N/A A N/A G N/A GAAAAAGGTGAATGTTGAGGGCCCTTCACTTCCATCACAAGAAAGTCATTAGACGGTACCAATTCAGTGTCTGTTCCT*GCATCTATTTCCTCTGTGC Galanin Receptor GALR1 CHAK00450 1 325 Not Confirmed Likely Rare African Promoter N/A N/A N/A 0 N/A N/A U90658 C 0.95 G 0.05 GGGCAGTGCGGGGAAGCGCCGCGGGAAGGAGCGGCTCCGAGCAACAGGTGCAGCACGCAG*CGCTCCGGGAGCCAGGGAAAACCGCCGGCGAAGATCTGGAGCGGTAAGGCGGAGAGAAGG Galanin Receptor GALR1 CHAK00451 1 327 Confirmed Certain Medium African Promoter N/A N/A N/A 0 N/A N/A U90658 G 0.85 C 0.15 GCAGTGCGGGGAAGCGCCGCGGGAAGGAGCGGCTCCGAGCAACAGGTGCAGCACGCAGCC*CTCCGGGAGCCAGGGAAAACCGCCGGCGAAGATCTGGAGCGGTAAGGCGGAGAGAAGGGT Galanin Receptor GALR1 CHAK00452 1 553 Confirmed Certain High African Promoter N/A N/A N/A 0 N/A N/A U90658 G 0.5 C 0.5 CCGTCCCTTCCCGAGAAGGTCCAGCTCCGGGCTCCCGAACCCACCCTCTCTCAGAAGGTC*CGGCGCAAAGACGGTGCCACCAGGCACGGCCACCGGATCCCCGCTCCCGCTGGCTCGCGC Galanin Receptor GALR1 CHAK00453 1 887 Not Confirmed Certain High African Coding Gly Gly Synonymous 3 GGC GGT U90658 C 0.5 T 0.5 CGGCATCGGCGTGGAGAACTTCGTCACGCTGGTGGTGTTCGGCCTGATCTTCGCGCTGGG*GTGCTGGGCAACAGCCTAGTGATCACCGTGCTGGCGCGCAGCAAGCCGGGCAAGCCGCGG Galanin Receptor GALR1 CHAK00454 1 1052 Not Confirmed Likely Low African Coding Val Val Synonymous 3 GTG GTT U90658 G 0.9 T 0.1 GGCCTACCTGCTCTTCTGCATCCCCTTCCAGGCCACCGTGTACGCGCTGCCCACCTGGGT*CTGGGCGCCTTCATCTGCAAGTTCATCCACTACTTCTTCACCGTGTCCATGCTGGTGAGC Galanin Receptor GALR1 CHAK00455 3 298 Not Confirmed Certain High African Coding Asn Ser Nonsynonymous 2 AAT AGT U90660 A 0.7 G 0.3 ATAAACAAGTGTTCAAGTGTCACATTCGCAAAGATTCACACCTGAGTGATACTAAAGAAA*TAAAAGTCGAATAGACACCCCACCATCAACCAATTGTACTCATGTGTGATAAAAGATAGA Galanin Receptor GALR1 CHAK00456 3 322 Not Confirmed Likely Rare African Coding Pro Leu Nonsynonymous 2 CCA CTA U90660 C 0.95 T 0.05 TTCGCAAAGATTCACACCTGAGTGATACTAAAGAAAATAAAAGTCGAATAGACACCCCAC*ATCAACCAATTGTACTCATGTGTGATAAAAGATAGAGTATCCTTATGGTTGAGTTTCCAT Galanin Receptor GALR1 CHAK00457 3 388 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A U90660 T 0.95 C 0.05 CCAATTGTACTCATGTGTGATAAAAGATAGAGTATCCTTATGGTTGAGTTTCCATATAAG*GGACCAGACACAGAAACAAACAGAATGAGCTAGTAAGCGATGCTGCAACTTGTTATCTTA Galanin Receptor GALR1 CHAK00458 3 418 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A U90660 C 0.95 G 0.05 AGTATCCTTATGGTTGAGTTTCCATATAAGTGGACCAGACACAGAAACAAACAGAATGAG*TAGTAAGCGATGCTGCAACTTGTTATCTTAACAAGAATTCAAGTCGTTTTAATTAAATCC Galanin Receptor GALR1 CHAK00459 3 523 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A U90660 G 0.95 T 0.05 CGTTTTAATTAAATCCCACGTGTGTTAAAAAGTACTTTGATCCATTTAGGAAATTCCTAG*TCTAGTGAGAATTATTTTTCAATTTTATTTTAGTTCTAAATTATGTTTCAGAAACAAAAG Galanin Receptor GALR1 CHAK00460 3 650 Not Confirmed Likely Low Both 3' UTR N/A N/A N/A 0 N/A N/A U90660 C 0.9 T 0.1 CTGTACAGTTTTATTCCTCTTCAGACATGAAAGGGAACATATATATTCCATATATATGTT*AACTCTTCATAGATTGTGAACTGGCCCATCAATATGGTCAGGAATATTTGCAGTCTACAT Galanin Receptor GALR1 CHAK00461 3 799 Not Confirmed Likely Medium Both 3' UTR N/A N/A N/A 0 N/A N/A U90660 A 0.8 G 0.2 TTTGAGCTTTAATTCTTTAATTTTAAGAGAAGTAATATTGTGAACTATGTATTTTAAAAT*TGATCATGGACACACAATGATGAATTTTTTGGCCATTTACATAGACATATCTATTAAGTG Glucagon GCG CHAK00727 1 44 Not Confirmed Likely Rare U.S. White Coding Tyr Tyr Synonymous 3 TAC TAT V01515 C 0.95 T 0.05 GCCCCCCTCACCCTACCCCCATTCTGTGTTCTGACAGACAGCAGAAATGAAAAGCATTTA*TTTGTGGCTGGATTATTTGTAATGCTGGTACAAGGCAGCTGGCAACGTTCCCTTCAAGAC Glucagon GCG CHAK00728 1 133 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A V01515 G 0.95 A 0.05 TACAAGGCAGCTGGCAACGTTCCCTTCAAGACACAGAGGAGAAATCCAGGTATTAAATCC*TAGTCTCGAACTAACATATCAATATGGTTGGAATAAAGCCTGTGAAAACTATGATTAGTG Glucagon GCG CHAK00729 1 560 Not Confirmed Likely Rare Both Intron N/A N/A N/A 0 N/A N/A V01515 C 0.95 T 0.05 CATACATGTTCATGATGGAAAGTATGAAAAATATGCAAAAAATATTAAGTACTCAAAATT*CTCTGTCCAAAGAAAGCTATTCAAAGTAAACAAATTTGGTGTATTACTTTCCTGTGTTTT Glucagon GCG CHAK00730 1 635 Not Confirmed Likely Low African Intron N/A N/A N/A 0 N/A N/A V01515 T 0.9 A 0.1 AGCTATTCAAAGTAAACAAATTTGGTGTATTACTTTCCTGTGTTTTACGTAAACTGTACA*AAATATCTCTTGGCTCATTATATGGCTTTGTATCATGCTTAATATCTTAACATTGTATTA Glucagon GCG CHAK00731 2 196 Not Confirmed Likely Low U.S. White Intron N/A N/A N/A 0 N/A N/A V01515 G 0.95 A 0.05 GACTCCAGGCGTGCCCAAGATTTTGTGCAGTGGTTGATGAATACCAAGAGGAACAGGTAA*AGTCTAAGCCTGGCTCAAAACTTGCTTATAAATGTATTAAATAGGTCTAAAATTTCTCTT Glucagon GCG CHAK00732 3 119 Not Confirmed Likely Rare African Coding Ala Val Nonsynonymous 2 GAT GTT V01515 C 0.95 T 0.05 TTGAGAGACATGCTGAAGGGACCTTTACCAGTGATGTAAGTTCTTATTTGGAAGGCCAAG*TGCCAAGGAATTCATTGCTTGGCTGGTGAAAGGCCGAGGAAGGCGAGAGTAAGTCTGTAC Glucagon GCG CHAK00733 4 447 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A V01515 A 0.95 T 0.05 ATTTACTGAGTGTCTATTAGAGTCAAGAAGCTAGAAACACAGATAGAAATGAAACATGGG*AATGTTACATCATTCACATATTGTCACATTAAAAATTGCTATGTTGAAATTTCAGCACAA Glucagon GCG CHAK00734 4 571 Not Confirmed Certain Rare African 3' UTR N/A N/A N/A 0 N/A N/A V01515 C 0.95 T 0.05 GAAATGCAGCATATACAATATTACATACTTAATTTAATAAGAAGAGTAGTGAGAACTGGA*ACCGAAAAATACTTATCTTGATGAATTTTGATTTTTTAATAATTATTCATAATTGTTTGA Glucagon GCG CHAK00735 4 615 Not Confirmed Certain High African 3' UTR N/A N/A N/A 0 N/A N/A V01515 T 0.65 C 0.35 AGTAGTGAGAACTGGACACCGAAAAATACTTATCTTGATGAATTTTGATTTTTTAATAAT*ATTCATAATTGTTTGATAGCATTGATGAGCAGACTTTAGGATAAATAATCTTTAAATGAA Glucagon GCG CHAK00736 4 672 Not Confirmed Certain Rare African 3' UTR N/A N/A N/A 0 N/A N/A V01515 T 0.95 C 0.05 AATTATTCATAATTGTTTGATAGCATTGATGAGCAGACTTTAGGATAAATAATCTTTAAA*GAAAATATTTTAAGAGTCCAAAGGATGGAGGGATTTATGGACAAAGGGATTAATAAACAA Glucagon Receptor GCGR CHAK00462 1 125 Not Confirmed Likely Rare African Coding Leu Leu Synonymous 3 CTG CTA L20316 G 0.95 A 0.05 CTAGCTGCCCAGAGGCATGCCCCCCTGCCAGCCACAGCGACCCCTGCTGCTGTTGCTGCT*CTGCTGGCCTGCCAGCCACAGGTCCCCTCCGCTCAGGTGATGGACTTCCTGTT Glucagon Receptor GCGR CHAK00463 11 57 Not Confirmed Likely Low Both Coding Phe Phe Synonymous 3 TTC TTT U03469 C 0.95 T 0.05 CCGGCTGGCCAAGTCCACGCTGACCCTCATCCCTCTGCTGGGCGTCCACGAAGTGGTCTT*GCCTTCGTGACGGACGAGCACGCCCAGGGCACCCTGCGCTCCGCCAAGCTCTTCTTCGAC Glucagon Receptor GCGR CHAK00464 4 68 Not Confirmed Likely Rare African N/A Pro Ala Nonsynonymous 1 CCT GCT L20316 C 0.95 G 0.05 CGCTTCGTGTTCAAGAGATGCGGGCCCGACGGTCAGTGGGTGCGTGGACCCCGGGGGCAG*CTTGGCGTGATGCCTCCCAGTGCCAGATGGATGGCGAGGAGATTGAGGTCCAGAAGGAGG Glucagon Receptor GCGR CHAK00465 5 71 Not Confirmed Likely Medium U.S. White Coding Ala Ala Synonymous 3 GCC GCG L20316 C 0.8 G 0.2 CAAGATGTACAGCAGCTTCCAGGTGATGTACACAGTGGGCTACAGCCTGTCCCTGGGGGC*CTGCTCCTCGCCTTGGCCATCCTGGGGGGCCTCAGCAAGCTGCACTGCACCCGCAATGCC Glucagon Receptor GCGR CHAK00466 9 29 Not Confirmed Likely Low U.S. White Coding Phe Cys Nonsynonymous 2 TTC TGC L20316 T 0.9 G 0.1 CAGTGGTCAAGTGTCTGTTCGAGAACGTCCAGTGCTGGACCAGCAATGACAACATGGGCT*CTGGTGGATCCTGCGGTTCCCCGTCTTCCTGGCCATCCTGATCAACTTCTTCATCTTCGT Glucokinase GCK CHAK00959 N/A -258 Am J Hypertens 1997 Sep;10(9 Pt 1):1049-52 N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A G N/A A N/A GACCTGCACCAGCGCGGCCAGGCCCCCTTAGGACCCCCTCCCTGTCCAAGGGCATTTCAGTAAGT*TTCTGTGGCCAAGGCAGCCTGGTGACTTTCTGCCCGCACAAGGCTGAGGAATGGAAGATGGGTAG Glucokinase GCK CHAK00960 N/A -30 Diabetes Care 1998 Jul;21(7):1194-7 N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A G N/A A N/A GGTCAGCCCTGCTGAGGCCACTCCTGGTCACCATGACAACCACAGGCCCTCTCAGGA*CACAGTAAGCCCTGGCAGGAGAATCCCCCACTCCACACCTGGCTGGAGCAGGAAATGCCGA Glutamine Fructose 6 Phosphate Amidotransferase GFPT1 CHAK00900 N/A 2930 Not Confirmed Likely N/A cDNA 3' UTR N/A N/A N/A 0 N/A N/A N/A T N/A G N/A AAGATGGGATGTGTACATGTTGGGTATCCTACTACTTTGTGTTTTCATCTCCTAAAAGTG*TTTTTATTTCCTTGTATCTGTAGTCTTTTATTTTTTAAATGACTGCTGAATGACATATTT Growth Hormone 1 GH1 CHAK00467 4 144 Not Confirmed Likely Rare U.S. White Coding Val Ile Nonsynonymous 1 GTC ATC J03071 G 0.95 A 0.05 GTGCAGTTCCTCAGGAGTGTCTTCGCCAACAGCCTGGTGTACGGCGCCTCTGACAGCAAC*TCTATGACCTCCTAAAGGACCTAGAGGAAGGCATCCAAACGCTGATGGGGGTGAGGGTGG Growth Hormone 1 GH1 CHAK00961 Promoter -75 Hum Genet 1997 Aug;100(2):249-55 N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A A N/A G N/A TCCATTAGCACAAGCCCGTCAGTGGCCCCATGCATAAATGT*CACAGAAACAGGTGGGGGCAACAGTGGGAGAGAAGGGGCCAGGGTATAAAAAGGGCCC Growth Hormone 1 GH1 CHAK00962 Promoter (+)16/ (+)25 Hum Genet 1997 Aug;100(2):249-55 N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A A N/A G N/A AAAAAGGGCCCACAAGAGACCTGCTCTAGGTCCCAAGGCCC*ACTCCCCGAACCACTCAGGGTCCTGTGGACAGCTCACCTAGCTGCAAT Growth Hormone 1 GH1 CHAK00963 Promoter (+)16/ (+)25 Hum Genet 1997 Aug;100(2):249-55 N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A A N/A C N/A AAAAAGGGCCCACAAGAGACCTGCTCTAGGTCCCAAGGCCCAACTCCCCGA*CCACTCAGGGTCCTGTGGACAGCTCACCTAGCTGCAAT Growth Hormone 2 GH2 CHAK00468 3 126 Not Confirmed Likely Rare U.S. White Coding Arg Trp Nonsynonymous 1 AGG TGG J03071 A 0.95 T 0.05 TTCCTGCAGAACCCCCAGACCTCCCTCTGCTTCTCAGAGTCTATTCCAACACCTTCCAAC*GGGTGAAAACGCAGCAGAAATCTGTGAGTGGATGCCTTCTCCCCAGGTGGGATGGGGTAG Gastric Inhibitory Polypeptide Receptor GIPR CHAK00469 2 72 Not Confirmed Likely Low African 5' UTR N/A N/A N/A 0 N/A N/A D49556 C 0.9 G 0.1 TGCCCTGGGACCCTCCAGGCCTGATCGCCCCTGCACGAACCAGACCCTTCGCCGCCCTCA*GATGACTACCTCTCCGATCCTGCAGCTGCTGCTGCGGCTCTCACTGTGCGGGCTGCTGCT Gastric Inhibitory Polypeptide Receptor GIPR CHAK00470 7 51 Not Confirmed Certain Medium African Coding Asn Asn Synonymous 3 AAC AAT D49558 C 0.8 T 0.2 TCTCCAGGGGCCCCCACACTGCCTTCCAAATTCCCCTAGGCGGCTACATTGCACTAGAAA*TATATCCACATCAACCTGTTCACGTCTTTCATGCTGCGAGCTGCGGCCATTCTCAGCCGA Gastric Inhibitory Polypeptide Receptor GIPR CHAK00471 8 180 Not Confirmed Likely Rare African Coding Leu Val Nonsynonymous 1 CTC GTC D49558 C 0.95 G 0.05 CACAGTCTCCTGGTGCTCGTGGGAGGCTCCGAGGAGGGCCACTTCCGCTACTACCTGCTC*TCGGCTGGGGTGAGCTCCGATCCCGTCCCCCGCCCAACCCAGCGCGCCTCTCCTCGGCTC "Guanine Nucleotide Binding Protein, Beta 3" GNB3 CHAK00518 1 184 Not Confirmed Likely Medium U.S. White Promoter N/A N/A N/A 0 N/A N/A U47924 A 0.85 C 0.15 GCCTGGGGAGCTGGGACGGGGCCCCGCTGCCGGACCTGCAGCCCTGGACAGATGGGGAAC*CTGTGCCTCCCTGAACAGAAATGGCAGGGGAGGAGGCTGATGCTTTAAATGAAGAGGATG "Guanine Nucleotide Binding Protein, Beta 3" GNB3 CHAK00519 1 201 Not Confirmed Certain High U.S. White Promoter N/A N/A N/A 0 N/A N/A U47924 A 0.55 G 0.45 GGGGCCCCGCTGCCGGACCTGCAGCCCTGGACAGATGGGGAACACTGTGCCTCCCTGAAC*GAAATGGCAGGGGAGGAGGCTGATGCTTTAAATGAAGAGGATGGTGGGGTTGGGAGGTAT "Guanine Nucleotide Binding Protein, Beta 3" GNB3 CHAK00520 1 328 Not Confirmed Certain High U.S. White Promoter N/A N/A N/A 0 N/A N/A U47924 A 0.6 G 0.4 GCTCCTCTCTCCCAGTCTGTGCAATAAAGGTCGTGAAGATCTCTCAGCCAGGGGCCAGTC*AGTGTATCACAGATTCTGTGATGGCTGGAGGTGGGGGTGGCTCTGGCTGGCCTGGGAGGA "Guanine Nucleotide Binding Protein, Beta 3" GNB3 CHAK00521 10 144 Not Confirmed Certain Low U.S. White Coding Gly Ser Nonsynonymous 1 GGC AGC U47924 G 0.9 A 0.1 TTGTTTGACCTGCGGGCAGACCAGGAGCTGATCTGCTTCTCCCACGAGAGCATCATCTGC*GCATCACGTCCGTGGCCTTCTCCCTCAGTGGCCGCCTACTATTCGCTGGCTACGACGACT "Guanine Nucleotide Binding Protein, Beta 3" GNB3 CHAK00522 10 155 Confirmed Certain High Both Coding Ser Ser Synonymous 3 TCC TCT U47924 C 0.35 T 0.65 GCGGGCAGACCAGGAGCTGATCTGCTTCTCCCACGAGAGCATCATCTGCGGCATCACGTC*GTGGCCTTCTCCCTCAGTGGCCGCCTACTATTCGCTGGCTACGACGACTTCAACTGCAAT "Guanine Nucleotide Binding Protein, Beta 3" GNB3 CHAK00523 11 129 Not Confirmed Likely Rare African Coding Trp Leu Nonsynonymous 2 TGG TTG U47924 G 0.95 T 0.05 GAGTCACAGCTGACGGGATGGCTGTGGCCACAGGTTCCTGGGACAGCTTCCTCAAAATCT*GAACTGAGGAGGCTGGAGAAAGGGAAGTGGAAGGCAGTGAACACACTCAGCAGCCCCCTG "Guanine Nucleotide Binding Protein, Beta 3" GNB3 CHAK00524 11 254 Not Confirmed Certain High African 3' UTR N/A N/A N/A 0 N/A N/A U47924 C 0.7 T 0.3 ACCCCATCTCATTCAGGTGTTCTCTTCTATATTCCGGGTGCCATTCCCACTAAGCTTTCT*CTTTGAGGGCAGTGGGGAGCATGGGACTGTGCCTTTGGGAGGCAGCATCAGGGACACAGG "Guanine Nucleotide Binding Protein, Beta 3" GNB3 CHAK00525 11 536 Not Confirmed Certain High Both 3' UTR N/A N/A N/A 0 N/A N/A U47924 C 0.5 T 0.5 TACCTTTGTCCAGGCCTGGGTGGTATAGGGCGTTTGGCCCTGTGACTATGGCTCTGGCAC*ACTAGGGTCCTGGCCCTCTTCTTATTCATGCTTTCTCCTTTTTCTACCTTTTTTTCTCTC Glucocorticoid Receptor GRL CHAK00976 N/A 1220 J Clin Endocrinol Metab 1998 Jan;83(1):144-51 N/A N/A Literature Search Coding Asn Ser Nonsynonymous 2 AAT AGT N/A A N/A G N/A TCTCAACAGCAGGATCAGAAGCCTATTTTTAATGTCATTCCACCAATTCCCGTTGGTTCCGAAA*TTGGAATAGGTGCCAAGGATCTGGAGATGACAACTTGACTTCTCTGGGGACTCTGAAC Glycogen Synthase 1 GYS1 CHAK00526 10 46 Not Confirmed Likely Rare African Coding Met Val Nonsynonymous 1 ATG GTG Z33628 A 0.95 G 0.05 CTCATTACTCCGTTCTCACATGCATGCCCCTGCTTGCCTTGCAGTGGGAGCCTTCCCGAC*TGAACAAGATGCTGGATAAGGAAGACTTCACTATGATGAAGAGAGCCATCTTTGCAACGC Glycogen Synthase 1 GYS1 CHAK00527 12 152 Not Confirmed Likely Rare African Coding Thr Thr Synonymous 3 ACA ACG Z33630 A 0.95 G 0.05 GTTTGTCCGTGGCTGTCACCTTGGAGTCTTCCCCTCCTACTATGAGCCTTGGGGCTACAC*CCGGGTGAGTGTAGTGGGCAGGGGACAGCGTGGTCATGGCATCCTAGTCAGAGCTAGCAT Glycogen Synthase 1 GYS1 CHAK00528 12 163 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A Z33630 G 0.95 A 0.05 GCTGTCACCTTGGAGTCTTCCCCTCCTACTATGAGCCTTGGGGCTACACACCGGGTGAGT*TAGTGGGCAGGGGACAGCGTGGTCATGGCATCCTAGTCAGAGCTAGCATGTCTTGGGGCG Glycogen Synthase 1 GYS1 CHAK00529 15 75 Not Confirmed Likely Rare U.S. White Coding Glu Gln Nonsynonymous 1 GAG CAG Z33633 G 0.95 C 0.05 CCTCCTTTCCCCTAGTACTATATGTCTGCGCGCCACATGGCGCTGTCCAAGGCCTTTCCA*AGCACTTCACCTACGAGCCCAACGAGGCGGATGCGGTGAGTGGACCCTGGATTTCTGCTT Glycogen Synthase 1 GYS1 CHAK00530 16 65 Not Confirmed Likely Low African Coding Val Val Synonymous 3 GTG GTA Z33633 G 0.95 A 0.05 TTTGCACCCACATCGCCGTATGCAGGCCCAGGGGTACCGCTACCCACGGCCAGCCTCGGT*CCACCGTCGCCCTCGCTGTCACGACACTCCAGCCCGCACCAGAGTGAGGACGAGGAGGAT Glycogen Synthase 1 GYS1 CHAK00531 16 152 Not Confirmed Likely Rare African Coding Asp Asp Synonymous 3 GAC GAT Z33633 C 0.95 T 0.05 CTCCAGCCCGCACCAGAGTGAGGACGAGGAGGATCCCCGGAACGGGCCGCTGGAGGAAGA*GGCGAGCGCTACGATGAGGACGAGGAGGCCGCCAAGGACCGGCGCAACATCCGTGCACCA Glycogen Synthase 1 GYS1 CHAK00532 16 210 Not Confirmed Likely Low U.S. White Coding Pro Ala Nonsynonymous 1 CCA GCA Z33633 C 0.9 G 0.1 GACGGCGAGCGCTACGATGAGGACGAGGAGGCCGCCAAGGACCGGCGCAACATCCGTGCA*CAGAGTGGCCGCGCCGAGCGTCCTGCACCTCCTCCACCAGCGGCAGCAAGCGCAACTCTG Glycogen Synthase 1 GYS1 CHAK00533 2 219 Confirmed Likely Rare U.S. White Intron N/A N/A N/A 0 N/A N/A Z33623 G 0.95 A 0.05 CCACCCCGGCCCTGAAGAGGACACTGGATTCCATGAACAGCAAGGGCTGCAAGGTGGGAC*TGGCCCAGCCCAGGGCAGAAGCGGGTGGACAGCCTGCCATC Glycogen Synthase 1 GYS1 CHAK00534 3 53 Not Confirmed Likely Rare U.S. White Coding Ile Met Nonsynonymous 3 ATC ATG Z33609 C 0.95 G 0.05 AGAGCCTCCCTATGGTGCCTCCCCAACCCCATCCCAGGTGTATTTCGGGCGCTGGCTGAT*GAGGGAGGCCCTCTGGTGGTGCTCCTGGACGTGGGTGCCTCAGCTTGGGCCCTGGAGCGC Glycogen Synthase 1 GYS1 CHAK00535 3 117 Not Confirmed Likely Low U.S. White Coding Lys Glu Nonsynonymous 1 AAG GAG Z33609 A 0.9 G 0.1 GGAGGCCCTCTGGTGGTGCTCCTGGACGTGGGTGCCTCAGCTTGGGCCCTGGAGCGCTGG*AGGGAGAGCTCTGGGATACCTGCAACATCGGAGTGCCGTGGTACGACCGCGAGGCCAACG Glycogen Synthase 1 GYS1 CHAK00536 3 134 Not Confirmed Likely Low U.S. White Coding Asp Asp Synonymous 3 GAT GAC Z33609 T 0.9 C 0.1 GCTCCTGGACGTGGGTGCCTCAGCTTGGGCCCTGGAGCGCTGGAAGGGAGAGCTCTGGGA*ACCTGCAACATCGGAGTGCCGTGGTACGACCGCGAGGCCAACGACGCTGTCCTCTTTGGC Glycogen Synthase 1 GYS1 CHAK00537 3 149 Not Confirmed Likely Low African Coding Gly Gly Synonymous 3 GGA GGG Z33609 A 0.95 G 0.05 TGCCTCAGCTTGGGCCCTGGAGCGCTGGAAGGGAGAGCTCTGGGATACCTGCAACATCGG*GTGCCGTGGTACGACCGCGAGGCCAACGACGCTGTCCTCTTTGGCTTTCTGACCACCTGG Glycogen Synthase 1 GYS1 CHAK00538 4 16 Not Confirmed Likely Low U.S. White Intron N/A N/A N/A 0 N/A N/A Z33624 C 0.95 T 0.05 CTACTGGGGATTGCCGATTCTTTTCCCAACACTCGTGGAGACAGTGGCCCTGTC*CTGTTGCCCACAGTTCCTGGCACAGAGTGAGGAGAAGCCACATGTGGTTGCTCACTTCCA Glycogen Synthase 1 GYS1 CHAK00539 5 44 Not Confirmed Likely Rare African Coding Lys Lys Synonymous 3 AAG AAA Z33625 G 0.95 A 0.05 TCTTCTCCCCAATCCTTCTAACCGACTGCTGTCCCCTCCCACCCAGTTCAACGTGGACAA*GAAGCAGGGGAGAGGCAGATCTACCACCGATACTGCATGGAAAGGGCGGCAGCCCACTGC Glycogen Synthase 1 GYS1 CHAK00540 6 54 Not Confirmed Likely Rare U.S. White Coding Asn Ser Nonsynonymous 2 AAT AGT Z33626 A 0.95 G 0.05 ACAAATAAAACATGGGACCCTCACCCCCAATCCCAGATATTGTGACCCCCAATGGGCTGA*TGTGAAGAAGTTTTCTGCCATGCATGAGTTCCAGAACCTCCATGCTCAGAGCAAGGCTCG Glycogen Synthase 1 GYS1 CHAK00541 7 16 Not Confirmed Likely Rare U.S. White Intron N/A N/A N/A 0 N/A N/A Z33610 T 0.95 G 0.05 TTGTAGTTTTGAGGCCAGGGCTAGCGGGTGAGGGCTTTGGGCTTTACCGTGCCT*GTGGGTTCTTTAGGCATCTGGACTTCAACTTGGACAAGACCTTATACTTCTTTATCGCCG Glycogen Synthase 1 GYS1 CHAK00542 7 17 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A Z33610 G 0.95 C 0.05 TTGTAGTTTTGAGGCCAGGGCTAGCGGGTGAGGGCTTTGGGCTTTACCGTGCCTT*TGGGTTCTTTAGGCATCTGGACTTCAACTTGGACAAGACCTTATACTTCTTTATCGCCGG Glycogen Synthase 1 GYS1 CHAK00543 7 114 Not Confirmed Certain High Both Coding Phe Phe Synonymous 3 TTC TTT Z33610 C 0.7 T 0.3 GACCTTATACTTCTTTATCGCCGGCCGCTATGAGTTCTCCAACAAGGGTGCTGACGTCTT*CTGGAGGCATTGGCTCGGCTCAACTATCTGCTCAGAGTGAGGCCTGGGCTATGAGGGGAC Glycogen Synthase 1 GYS1 CHAK00544 8 43 Not Confirmed Likely Low U.S. White Coding Glu Gly Nonsynonymous 2 GAG GGG Z33627 A 0.9 G 0.1 GCTTCCCCCACATGATCCTGGCCTCCCCCTCCTTTCTTTCTGCGCAGGTGAACGGCAGCG*GCAGACAGTGGTTGCCTTCTTCATCATGCCAGCGCGGACCAACAATTTCAACGTGGAAAC Haptoglobin HP CHAK00545 1 135 Not Confirmed Certain Rare African 5' UTR N/A N/A N/A 0 N/A N/A M69197 T 0.95 C 0.05 TGAAAAAACTCAAAATGAGCCTTTCTGCAGTGTGAAAATCCTCCAAGATAAAGAGACAGA*TGATGGTTCCTGCCGCCGCCCTGTCCTGCCCAGTTGCTGATTTCAGGAAATACTTTGGCA Haptoglobin HP CHAK00546 1 188 Not Confirmed Likely Low Both 5' UTR N/A N/A N/A 0 N/A N/A M69197 C 0.95 T 0.05 AGACAGATTGATGGTTCCTGCCGCCGCCCTGTCCTGCCCAGTTGCTGATTTCAGGAAATA*TTTGGCAGGTTTGTGGGTCATAGAGTTGCCAGGTTTCTTGGGATTTGTAATAGAACATCA Haptoglobin HP CHAK00547 1 239 Not Confirmed Likely Rare Both 5' UTR N/A N/A N/A 0 N/A N/A M69197 T 0.95 G 0.05 CAGGAAATACTTTGGCAGGTTTGTGGGTCATAGAGTTGCCAGGTTTCTTGGGATTTGTAA*AGAACATCACAAGAAAATCAAGTGTGAAGCAAGAGCTCAACTCTTAACAGGGGTATTGTT Haptoglobin HP CHAK00548 1 326 Not Confirmed Certain High African 5' UTR N/A N/A N/A 0 N/A N/A M69197 T 0.6 A 0.4 AAGCAAGAGCTCAACTCTTAACAGGGGTATTGTTTGTGGTTTTGTTACTGGAAAAGATAG*GACCTTACCAGGGCCAAAGTTTGTAGACACAGGAATTACGAAATGGAGAAGGGGGAGAAG Haptoglobin HP CHAK00549 1 329 Not Confirmed Likely Medium African 5' UTR N/A N/A N/A 0 N/A N/A M69197 C 0.75 G 0.25 CAAGAGCTCAACTCTTAACAGGGGTATTGTTTGTGGTTTTGTTACTGGAAAAGATAGTGA*CTTACCAGGGCCAAAGTTTGTAGACACAGGAATTACGAAATGGAGAAGGGGGAGAAGTGA Haptoglobin HP CHAK00550 1 369 Not Confirmed Likely Medium African 5' UTR N/A N/A N/A 0 N/A N/A M69197 A 0.9 C 0.1 GTTACTGGAAAAGATAGTGACCTTACCAGGGCCAAAGTTTGTAGACACAGGAATTACGAA*TGGAGAAGGGGGAGAAGTGAGCTAGTGGCAGCATAAAAAGACCAGCAGATGCCCCACAGC Haptoglobin HP CHAK00551 1 375 Not Confirmed Certain Medium African 5' UTR N/A N/A N/A 0 N/A N/A M69197 A 0.85 G 0.15 GGAAAAGATAGTGACCTTACCAGGGCCAAAGTTTGTAGACACAGGAATTACGAAATGGAG*AGGGGGAGAAGTGAGCTAGTGGCAGCATAAAAAGACCAGCAGATGCCCCACAGCACTGCT Haptoglobin HP CHAK00552 4 34 Not Confirmed Likely High Both Coding Val Val Synonymous 3 GTA GTG M69197 A 0.65 G 0.35 TGCTCTGGGTGCAGACTTGACTTTTCCTTTGGCTCATTTCTTGCCTTTTGTTTCAGGAGT*TACACCTTAAATGATAAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAA Haptoglobin HP CHAK00553 6 34 Not Confirmed Likely High Both Coding Val Val Synonymous 3 GTA GTG M69197 G 0.65 A 0.35 TGCACGGGGTCTAGACTTGACTTCTCCTTTGGCTCACTTCTTGCCTTTTGTTTCAGGAGT*TACACCTTAAACAATGAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAA Haptoglobin HP CHAK00554 7 367 Not Confirmed Likely Rare U.S. White Coding Glu Glu Synonymous 3 GAG GAA M69197 G 0.95 A 0.05 TAACTACTCCCAGGTAGATATTGGGCTCATCAAACTCAAACAGAAGGTGTCTGTTAATGA*AGAGTGATGCCCATCTGCCTACCTTCAAAGGATTATGCAGAAGTAGGGCGTGTGGGTTAT Haptoglobin HP CHAK00555 7 610 Not Confirmed Likely Rare African Coding Ala Ala Synonymous 3 GCT GCC M69197 T 0.95 C 0.05 GAAGACACCGAAGAGCCCTGTAGGGGTGCAGCCCATACTGAATGAACACACCTTCTGTGC*GGCATGTCTAAGTACCAAGAAGACACCTGCTATGGCGATGCGGGCAGTGCCTTTGCCGTT Haptoglobin HP CHAK00556 7 673 Not Confirmed Likely Rare African Coding His His Synonymous 3 CAC CAT M69197 C 0.95 T 0.05 CATGTCTAAGTACCAAGAAGACACCTGCTATGGCGATGCGGGCAGTGCCTTTGCCGTTCA*GACCTGGAGGAGGACACCTGGTATGCGACTGGGATCTTAAGCTTTGATAAGAGCTGTGCT Haptoglobin HP CHAK00557 7 1331 Not Confirmed Certain Rare African 3' UTR N/A N/A N/A 0 N/A N/A M69197 C 0.95 T 0.05 TTTGAACCCAGGTCTGTTTGATACAAACTCAGAGGTCCTTTCACTGCATGCTGTTGCCTC*TCAAAGTGAATTAGGAGAAAAGGCATGGGCCTGGTTGAGGAAGAGGCTAGCTCAAAATGG "11 Beta Hydroxysteroid Dehydrogenase, Kidney" HSD11B2 CHAK00558 2 232 Not Confirmed Likely Low U.S. White Coding Thr Thr Synonymous 3 ACC ACA U27318 C 0.9 A 0.1 GATGGACCTGACCAAACCAGGAGACATTAGCCGCTTTCTAGAGTTCACCAAGGCCCACAC*ACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGG "11 Beta Hydroxysteroid Dehydrogenase, Kidney" HSD11B2 CHAK00559 3 139 Not Confirmed Certain Medium African Coding Ala Ala Synonymous 3 GCG GCA U27318 G 0.8 A 0.2 TGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGC*CTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACT "11 Beta Hydroxysteroid Dehydrogenase, Kidney" HSD11B2 CHAK00560 5 951 Not Confirmed Likely Low U.S. White 3' UTR N/A N/A N/A 0 N/A N/A U27318 T 0.95 A 0.05 GAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAA*TGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGCAGGTGCTG Islet Amyloid Polypeptide IAPP CHAK00561 "1,2" 199 Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A X52818 T 0.95 C 0.05 TGAAACATTAAAAGGTAAAGAATTTCCTATTTCTGGGAAAGTTTTATTTATTTAGAGAAA*GCACACTTGGTGTTAAATTCATGGTTTATTTCAAAGAAAGGCTAAAGGGAGAATGTATTA Islet Amyloid Polypeptide IAPP CHAK00562 "1,2" 358 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A X52818 A 0.95 C 0.05 GAAAGTAAAAATCTCGAAATTACTTGAAAAGTGGACAATATTAAGGGACTGTATCAATAA*AATTTTGATCCTTGTAAATTACGTTTTAAAAAGATGTTTCTTTTAAAAACTAAGCTCTAA Islet Amyloid Polypeptide IAPP CHAK00563 3 296 Not Confirmed Likely Medium Both 3' UTR N/A N/A N/A 0 N/A N/A X52819 C 0.8 T 0.2 ATAGTTATTGTTTTATGTTCTAGTGATTTCCTGTATAATTTAACAGTGCCCTTTTCATCT*CAGTGTGAATATATGGTCTGTGTGTCTGATGTTTGTTGCTAGGACATATACCTTCTCAAA Islet Amyloid Polypeptide IAPP CHAK00564 3 848 Not Confirmed Likely Medium U.S. White 3' UTR N/A N/A N/A 0 N/A N/A X52819 G 0.2 A 0.8 AACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTG*CAGAGTGAGACTCGTCTCAAAAAAAAGAAAGAAAATTAGTAATTGTAAGTACCCCTGATA Islet Amyloid Polypeptide IAPP CHAK00565 3 959 Not Confirmed Likely Medium Both 3' UTR N/A N/A N/A 0 N/A N/A X52819 A 0.85 G 0.15 ACCCCTGATAAGCAAATTAGTAATTGTCAATACCCCTGTTAAGCAATTCCTTTTTGCAGT*TATTTCTGAAATGACAGAATGCTGTTTTAAAAACAAAGAAATAAAATCCTGCTCCTGACT Islet Amyloid Polypeptide IAPP CHAK00566 3 1050 Not Confirmed Certain Medium African 3' UTR N/A N/A N/A 0 N/A N/A X52819 T 0.85 C 0.15 AAACAAAGAAATAAAATCCTGCTCCTGACTCGGTCAAAATATTTTTTAAAGTCTATTGTT*GTTGTGCTTGCTGGTACTAAGAGGCTATTTAAAAGTATAAAACTGCTTTGTATCCATGAG Islet Amyloid Polypeptide IAPP CHAK00567 3 1076 Not Confirmed Likely Medium Both 3' UTR N/A N/A N/A 0 N/A N/A X52819 T 0.75 A 0.25 GACTCGGTCAAAATATTTTTTAAAGTCTATTGTTTGTTGTGCTTGCTGGTACTAAGAGGC*ATTTAAAAGTATAAAACTGCTTTGTATCCATGAGGGTTTCATTGTGTGTTAGCAGCAGTG Islet Amyloid Polypeptide IAPP CHAK00568 3 1184 Not Confirmed Likely High Both 3' UTR N/A N/A N/A 0 N/A N/A X52819 A 0.7 C 0.3 GTTAGCAGCAGTGAGCTTCTATTAAATGTATATGTCATTTATTTTGTTTAAGTGGCTTTC*GCAAACCTCAGTCATATTCTTATGCAGGGTATTGCGAAACAACTTGTGTTCTATTAATCG Intercellular Adhesion Molecule 1 ICAM1 CHAK00569 1 683 Confirmed Certain High African Promoter N/A N/A N/A 0 N/A N/A X59286 A 0.6 C 0.4 ATAAAGGATCACGCGCCCCAGTCGACGCTGAGCTCCTCTGCTACTCAGAGTTGCAACCTC*GCCTCGCTATGGCTCCCAGCAGCCCCCGGCCCGCGCTGCCCGCACTCCTGGTCCTGCTCG Intercellular Adhesion Molecule 1 ICAM1 CHAK00570 2 115 Confirmed Certain High African Coding Lys Met Nonsynonymous 2 AAG ATG X59287 A 0.65 T 0.35 TCATCCTGCCCCGGGGAGGCTCCGTGCTGGTGACATGCAGCACCTCCTGTGACCAGCCCA*GTTGTTGGGCATAGAGACCCCGTTGCCTAAAAAGGAGTTGCTCCTGCCTGGGAACAACCG Intercellular Adhesion Molecule 1 ICAM1 CHAK00571 3 151 Not Confirmed Likely Rare African Coding Lys Asn Nonsynonymous 3 AAG AAC X59288 G 0.95 C 0.05 CCAGGTGGAGGGTGGGGCACCCCGGGCCAACCTCACCGTGGTGCTGCTCCGTGGGGAGAA*GAGCTGAAACGGGAGCCAGCTGTGGGGGAGCCCGCTGAGGTCACGACCACGGTGCTGGTG Intercellular Adhesion Molecule 1 ICAM1 CHAK00572 4 115 Not Confirmed Likely Medium African Coding Gly Gly Synonymous 3 GGG GGT X59288 G 0.85 T 0.15 TGTCAGCCCCCGGGTCCTAGAGGTGGACACGCAGGGGACCGTGGTCTGTTCCCTGGACGG*CTGTTCCCAGTCTCGGAGGCCCAGGTCCACCTGGCACTGGGGGACCAGAGGTTGAACCCC Intercellular Adhesion Molecule 1 ICAM1 CHAK00573 4 238 Not Confirmed Likely Rare African Coding Asp Asp Synonymous 3 GAC GAT X59288 C 0.95 T 0.05 AGTCACCTATGGCAACGACTCCTTCTCGGCCAAGGCCTCAGTCAGTGTGACCGCAGAGGA*GAGGGCACCCAGCGGCTGACGTGTGCAGTAATACTGGGGAACCAGAGCCAGGAGACACTG Intercellular Adhesion Molecule 1 ICAM1 CHAK00574 5 47 Not Confirmed Likely Rare African Coding Val Met Nonsynonymous 1 GTG ATG X59288 G 0.95 A 0.05 GTGACCTGAACCCGGGGCGGGGCTCACTGTGTGCCTATTCCAGGCTTTCCGGCGCCCAAC*TGATTCTGACGAAGCCAGAGGTCTCAGAAGGGACCGAGGTGACAGTGAAGTGTGAGGCCC Intercellular Adhesion Molecule 1 ICAM1 CHAK00575 6 18 Not Confirmed Likely Low African Intron N/A N/A N/A 0 N/A N/A X59288 G 0.95 A 0.05 TCCCATAAGGTCTTGCCTCCAAGTCCTGCCCCCACCCACCTCCATGTCATCTCATC*TGTTTTTCCAGATGGCCCCCGACTGGACGAGAGGGATTGTCCGGGAAACTGGACGTGGCC Intercellular Adhesion Molecule 1 ICAM1 CHAK00576 6 39 Not Confirmed Likely Rare African Coding Arg Gln Nonsynonymous 2 CGA CAA X59288 G 0.95 A 0.05 TCCAAGTCCTGCCCCCACCCACCTCCATGTCATCTCATCGTGTTTTTCCAGATGGCCCCC*ACTGGACGAGAGGGATTGTCCGGGAAACTGGACGTGGCCAGAAAATTCCCAGCAGACTCC Intercellular Adhesion Molecule 1 ICAM1 CHAK00577 6 254 Confirmed Certain High Both Coding Glu Lys Nonsynonymous 1 GAG AAG X59288 G 0.3 A 0.7 CGAGATCTTGAGGGCACCTACCTCTGTCGGGCCAGGAGCACTCAAGGGGAGGTCACCCGC*AGGTGACCGTGAATGTGCTCTGTGAGTGAGCCGGCGGGCAGAGCTGGGTGGGGGCAGGGG Intercellular Adhesion Molecule 1 ICAM1 CHAK00578 7 304 Not Confirmed Likely Rare U.S. White 3' UTR N/A N/A N/A 0 N/A N/A X59288 C 0.95 T 0.05 TGGTGGCAGTGGTGCCACACTGAACAGAGTGGAAGACATATGCCATGCAGCTACACCTAC*GGCCCTGGGACGCCGGAGGACAGGGCATTGTCCTCAGTCAGATACAACAGCATTTGGGGC Intercellular Adhesion Molecule 1 ICAM1 CHAK00579 7 869 Not Confirmed Likely Rare U.S. White 3' UTR N/A N/A N/A 0 N/A N/A X59288 A 0.95 G 0.05 GGTCACCAGGTACAGTTGTACAGGTTGTACACTGCAGGAGAGTGCCTGGCAAAAAGATCA*ATGGGGCTGGGACTTCTCATTGGCCAACCTGCCTTTCCCCAGAAGGAGTGATTTTTCTAT Intercellular Adhesion Molecule 1 ICAM1 CHAK00580 7 929 Not Confirmed Likely Rare African 3' UTR N/A N/A N/A 0 N/A N/A X59288 T 0.95 C 0.05 AATGGGGCTGGGACTTCTCATTGGCCAACCTGCCTTTCCCCAGAAGGAGTGATTTTTCTA*CGGCACAAAAGCACTATATGGACTGGTAATGGTTCACAGGTTCAGAGATTACCCAGTGAG Intercellular Adhesion Molecule 1 ICAM1 CHAK00977 N/A 96 Hum Genet 1996 Jan;97(1):15-20 N/A N/A Literature Search Coding Thr Thr Synonymous 3 ACC ACA N/A C N/A A N/A CTGCCAGCGACTCCCCCACAACTTGTCAGCCCCCGGGTCCTAGAGGTGGACACGCAGGGGAC*GTGGTCTGTTCCCTGGACGGGCTGTTCCCAGTCTCGGAGGCCCAGGTCCACCTG Intercellular Adhesion Molecule 1 ICAM1 CHAK00978 N/A 117 Genomics 1994 Jun;21(3):473-7 N/A N/A Literature Search Coding Gly Arg Nonsynonymous 1 GGG AGG N/A G N/A A N/A GTCAGCCCCCGGGTCCTAGAGGTGGACACGCAGGGGACCGTGGTCTGTTCCCTGGAC*GGCTGTTCCCAGTCTCGGAGGCCCAGGTCCACCTGGCACTGGGGGACCAGAGGTTGA Intercellular Adhesion Molecule 2 ICAM2 CHAK00581 1 300 Confirmed Likely Rare African Coding Phe Phe Synonymous 3 TTC TTT M32331 C 0.95 T 0.05 TCCAGGCAGCCCTTGGCTGGTCCCTGCGAGCCCGTGGAGACTGCCAGAGATGTCCTCTTT*GGTTACAGGACCCTGACTGTGGCCCTCTTCACCCTGATCTGCTGTCCAGGTAAGCCAGTT Intercellular Adhesion Molecule 2 ICAM2 CHAK00582 2 63 Confirmed Certain Low African Coding Ala Thr Nonsynonymous 1 GCG ACG M32332 G 0.95 A 0.05 TCTGGTTTTCCAGGATCGGATGAGAAGGTATTCGAGGTACACGTGAGGCCAAAGAAGCTG*CGGTTGAGCCCAAAGGGTCCCTCGAGGTCAACTGCAGCACCACCTGTAACCAGCCTGAAG Intercellular Adhesion Molecule 2 ICAM2 CHAK00583 3 281 Confirmed Likely Rare African Coding Arg His Nonsynonymous 2 CGC CAC M32333 G 0.95 A 0.05 CTGACAGAGAGGATGGCCACCGCAACTTCTCCTGCCTGGCTGTGCTGGACTTGATGTCTC*CGGTGGCAACATCTTTCACAAACACTCAGCCCCGAAGATGTTGGAGATCTATGGTGAGGG Insulin-like Growth Factor 2 IGF2 CHAK00979 N/A N/A WIAF-1160 N/A N/A Literature Search Unknown N/A N/A N/A 0 N/A N/A N/A A N/A G N/A CTGAACCAGCAAAGAGAAAAGAAGG*CCCCAGAAATCACAGGTGGGCACGT Insulin-like Growth Factor Binding Protein 1 IGFBP1 CHAK00980 Promoter (+)1339 WIAF-1364 N/A N/A Literature Search Intron N/A N/A N/A 0 N/A N/A N/A C N/A T N/A ACCCAGTGGAGCCCGCTCATTGCACGGTCTTGGCAGGAGGTGC*CTGGGAGAAGAAGGAAGATGTTCCAGGGCACACATAGCTTAGTGGAGACTC Insulin INS CHAK00584 1 233 Confirmed Certain High Both 5' UTR N/A N/A N/A 0 N/A N/A E00022 T 0.7 A 0.3 TGAGCCCAGGGGCCCCAAGGCAGGGCACCTGGCCTTCAGCCTGCCTCAGCCCTGCCTGTC*CCCAGATCACTGTCCTTCTGCCATGGCCCTGTGGATGCGCCTCCTGCCCCTGCTGGCGCT Insulin INS CHAK00585 1 247 Not Confirmed Likely Rare U.S. White 5' UTR N/A N/A N/A 0 N/A N/A E00022 C 0.95 T 0.05 CCAAGGCAGGGCACCTGGCCTTCAGCCTGCCTCAGCCCTGCCTGTCTCCCAGATCACTGT*CTTCTGCCATGGCCCTGTGGATGCGCCTCCTGCCCCTGCTGGCGCTGCTGGCCCTCTGGG Insulin INS CHAK00586 1 453 Not Confirmed Certain Medium African Intron N/A N/A N/A 0 N/A N/A E00022 C 0.75 T 0.25 AGGCTTCTTCTACACACCCAAGACCCGCCGGGAGGCAGAGGACCTGCAGGGTGAGCCAAC*GCCCATTGCTGCCCCTGGCCGCCCCCAGCCACCCCCTGCTCCTGGCGCTCCCACCCA Insulin INS CHAK00587 2 14 Not Confirmed Likely Rare African Intron N/A N/A N/A 0 N/A N/A E00022 C 0.95 T 0.05 TGTGTCCTCCTGTGTCCCTCTGCCTCGCCGCTGTTCCGGAACCTGCTCTGCG*GGCACGTCCTGGCAGTGGGGCAGGTGGAGCTGGGCGGGGGCCCTGGTGCAGGCAGCCTGC Insulin Receptor INSR CHAK00982 N/A 19/20 Int J Obes Relat Metab Disord 1998 Apr;22(4):349-353 N/A N/A Literature Search Coding Tyr Tyr Synonymous 3 TAC TAT N/A C N/A T N/A CCCAAGGATCCTCCAAGGATGCTGTGTAGATAAGTAAGAAGTAGTGTTTCCATGCTCTGTGTA*GTGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTT Insulin Receptor INSR CHAK00983 N/A 19/20 Int J Obes Relat Metab Disord 1998 Apr;22(4):349-353 N/A N/A Literature Search Coding Val Met Nonsynonymous 1 GTG ATG N/A G N/A A N/A CCCAAGGATCCTCCAAGGATGCTGTGTAGATAAGTAAGAAGTAGTGTTTCCATGCTCTGTGTAC*TGCCGGACGAGTGGGAGGTGTCTCGAGAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTT Insulin Promoter Factor 1 IPF1 CHAK00981 Promoter -108 Diabetologia 1998 May;41(5):603-5 N/A N/A Literature Search Promoter N/A N/A N/A 0 N/A N/A N/A . N/A G N/A GCCCGCCGGTCCGCGCTGGCTGTGGGTTCCCTCTGAGATCAGTGCGGAGCTGTCAAAGCGAGCA*GGGTGGCGCCGGGAGTGGGAACGCCACACAGTGCCAAATCCCCGGCTCCAGC Insulin Receptor Substrate 2 IRS2 CHAK00984 N/A 2635 Diabetes 1998 Jun;47(6):976-9 N/A N/A Literature Search Coding Gly Ser Nonsynonymous 1 GGC AGC N/A G N/A A N/A CACGCAGCCCCCTCACCCTGTAGTGCCTTCGC