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: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs11217040
rs11217040
2 0.925 0.200 11 118809939 regulatory region variant C/A snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs11221332
rs11221332
13 0.763 0.280 11 128511079 intron variant C/A;T snv 0.800 1.000 1 2010 2010
dbSNP: rs1131498
rs1131498
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2006 2006
dbSNP: rs114846446
rs114846446
14 0.724 0.240 2 2944140 intron variant G/A snv 9.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs11552708
rs11552708
5 0.882 0.240 17 7559238 missense variant G/A;C snv 0.13; 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs11580078
rs11580078
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1161457931
rs1161457931
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2018 2018
dbSNP: rs11711054
rs11711054
2 1.000 0.080 3 46304120 intergenic variant G/A snv 0.73 0.700 1.000 1 2014 2014
dbSNP: rs11712165
rs11712165
5 0.882 0.200 3 119399949 intron variant T/G snv 0.30 0.800 1.000 1 2010 2010
dbSNP: rs11734090
rs11734090
1 1.000 0.080 4 122306958 intron variant T/C snv 0.25 0.700 1.000 1 2014 2014
dbSNP: rs117372389
rs117372389
14 0.724 0.240 16 50634166 3 prime UTR variant G/T snv 1.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs11741255
rs11741255
14 0.724 0.240 5 132475490 intron variant G/A snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs11839053
rs11839053
14 0.724 0.240 13 106410694 intergenic variant T/C snv 7.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs11851414
rs11851414
1 1.000 0.080 14 68792785 intron variant T/C snv 0.25 0.800 1.000 1 2011 2011
dbSNP: rs11875687
rs11875687
1 1.000 0.080 18 12843138 intron variant T/C snv 0.17 0.800 1.000 2 2011 2012
dbSNP: rs11938795
rs11938795
3 0.882 0.120 4 122151854 upstream gene variant T/C snv 0.24 0.700 1.000 1 2014 2014
dbSNP: rs12068671
rs12068671
2 0.925 0.160 1 172711891 intergenic variant T/C snv 0.23 0.800 1.000 1 2011 2011
dbSNP: rs1208663703
rs1208663703
9 0.763 0.200 22 37086414 missense variant T/C snv 5.2E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs12142280
rs12142280
1 1.000 0.080 1 172895512 intron variant T/A snv 0.21 0.800 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs12232497
rs12232497
18 0.701 0.360 17 39883866 intergenic variant T/C snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs1248696
rs1248696
8 0.807 0.080 10 77856847 missense variant T/A;C snv 0.93 0.010 < 0.001 1 2011 2011
dbSNP: rs1250552
rs1250552
5 0.882 0.200 10 79298270 intron variant A/C;G snv 0.800 1.000 2 2010 2011
dbSNP: rs1250557
rs1250557
1 1.000 0.080 10 79306017 intron variant G/T snv 0.63 0.700 1.000 1 2016 2016