Source: ALL
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: rs10249788
rs10249788
6 0.827 0.160 7 17298523 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10489854
rs10489854
1 1.000 0.040 1 159279069 non coding transcript exon variant C/T snv 8.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs1050153
rs1050153
2 0.925 0.120 3 196049444 3 prime UTR variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1058808
rs1058808
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 < 0.001 1 2018 2018
dbSNP: rs1059513
rs1059513
11 0.776 0.240 12 57095926 3 prime UTR variant T/C snv 8.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs11079788
rs11079788
2 0.925 0.120 17 47743357 intron variant C/T snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs11150780
rs11150780
2 0.925 0.120 17 81290360 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11167761
rs11167761
2 0.925 0.120 5 141858778 intron variant G/A snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs11204971
rs11204971
2 0.925 0.120 1 152286602 intron variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs112111458
rs112111458
2 0.925 0.120 2 70872975 intergenic variant A/G snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs113136594
rs113136594
2 0.925 0.120 1 152313436 missense variant G/A;C;T snv 6.0E-04; 4.0E-06; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs11362
rs11362
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.010 1.000 1 2010 2010
dbSNP: rs11558538
rs11558538
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs115746363
rs115746363
3 0.882 0.120 1 152312410 stop gained G/A;C snv 6.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs12186803
rs12186803
2 0.925 0.120 5 132704377 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1221479287
rs1221479287
2 0.925 0.120 19 54783499 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1239828657
rs1239828657
2 0.925 0.120 9 6256028 missense variant T/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs12568784
rs12568784
2 0.925 0.120 1 152350656 stop gained G/A;T snv 0.24 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs12634229
rs12634229
3 0.882 0.120 3 112657461 intergenic variant T/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs13139310
rs13139310
3 0.925 0.120 4 184435757 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1335908042
rs1335908042
2 0.925 0.120 2 112918756 missense variant T/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs13360927
rs13360927
3 0.882 0.160 5 110700055 intron variant A/G snv 9.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs13361382
rs13361382
3 0.882 0.160 5 110713253 intron variant G/A snv 9.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs1343795
rs1343795
5 0.882 0.120 17 49334880 intron variant C/A snv 0.78 0.010 1.000 1 2018 2018
dbSNP: rs1422985
rs1422985
2 0.925 0.120 5 148114596 intron variant A/C snv 3.2E-02 0.010 1.000 1 2010 2010