Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1054037
rs1054037
1 1.000 0.080 4 102631552 3 prime UTR variant C/A;T snv 0.800 1.000 2 2011 2015
dbSNP: rs12936231
rs12936231
3 0.925 0.160 17 39872867 intron variant C/G;T snv 0.700 1.000 2 2012 2012
dbSNP: rs243323
rs243323
1 1.000 0.080 16 11267345 intron variant A/C;G;T snv 0.700 1.000 2 2012 2012
dbSNP: rs2866413
rs2866413
1 1.000 0.080 4 102635920 missense variant G/A;C snv 0.54; 2.4E-05 0.700 1.000 2 2011 2012
dbSNP: rs4149581
rs4149581
1 1.000 0.080 12 6337819 intron variant T/A;C snv 0.700 1.000 2 2011 2012
dbSNP: rs1008723
rs1008723
3 0.925 0.160 17 39910014 intron variant G/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1011082
rs1011082
1 1.000 0.080 17 39912261 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1015092
rs1015092
1 1.000 0.080 20 8769415 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10266101
rs10266101
1 1.000 0.080 7 4034187 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10278187
rs10278187
1 1.000 0.080 7 4034741 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1031458
rs1031458
1 1.000 0.080 17 39915920 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1052594
rs1052594
2 1.000 0.080 17 46025323 3 prime UTR variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1076222
rs1076222
2 1.000 0.080 17 46032403 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10889681
rs10889681
1 0.925 0.160 1 67333487 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs10931468
rs10931468
1 0.925 0.080 2 190673836 intron variant C/A;G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs10982445
rs10982445
1 1.000 0.080 9 114897411 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs11078928
rs11078928
1 0.925 0.160 17 39908216 splice acceptor variant T/A;C snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs11078929
rs11078929
1 1.000 0.080 17 39983981 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11079729
rs11079729
2 1.000 0.080 17 46038203 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11117433
rs11117433
1 0.827 0.160 16 85985910 upstream gene variant G/A;C;T snv 0.800 1.000 1 2012 2012
dbSNP: rs111972148
rs111972148
1 1.000 0.080 17 45895755 intron variant G/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11604811
rs11604811
1 1.000 0.080 11 72678939 upstream gene variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11650661
rs11650661
1 1.000 0.080 17 39870033 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12150090
rs12150090
2 1.000 0.080 17 46038520 non coding transcript exon variant C/G;T snv 8.0E-06; 0.14 0.700 1.000 1 2012 2012
dbSNP: rs12150447
rs12150447
2 1.000 0.080 17 46050759 intron variant A/C;G snv 0.700 1.000 1 2012 2012