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: rs121908940
rs121908940
2 0.925 0.120 20 32807793 missense variant G/A;T snv 2.8E-05; 1.2E-05 0.700 0
dbSNP: rs140506267
rs140506267
2 0.925 0.040 9 894044 missense variant A/G snv 2.7E-03 1.3E-03 0.700 0
dbSNP: rs879253743
rs879253743
1 1.000 0.040 2 100975538 missense variant C/A;G snv 0.700 0
dbSNP: rs138178131
rs138178131
1 1.000 0.040 X 77969564 missense variant C/A;G snv 5.5E-06; 3.2E-03 7.9E-04 0.010 < 0.001 1 2013 2013
dbSNP: rs3088232
rs3088232
1 1.000 0.040 1 91979700 missense variant C/G;T snv 0.21; 1.6E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs10842262
rs10842262
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.720 0.500 2 2011 2015
dbSNP: rs12097821
rs12097821
4 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 0.720 0.500 2 2011 2015
dbSNP: rs3129878
rs3129878
6 0.807 0.360 6 32440958 intron variant A/C snv 0.30 0.720 0.667 3 2012 2017
dbSNP: rs2477686
rs2477686
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.720 1.000 2 2011 2015
dbSNP: rs498422
rs498422
3 0.882 0.160 6 32318984 intron variant T/G snv 0.14 0.710 1.000 2 2012 2017
dbSNP: rs7194
rs7194
7 0.827 0.280 6 32444703 3 prime UTR variant G/A snv 0.61 0.020 1.000 2 2014 2017
dbSNP: rs10248566
rs10248566
1 1.000 0.040 7 91638848 non coding transcript exon variant G/C snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs1039229
rs1039229
1 1.000 0.040 12 24032586 intron variant T/C snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs10910078
rs10910078
1 1.000 0.040 1 2459149 intron variant T/C snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs10978121
rs10978121
1 1.000 0.040 9 9945648 intron variant T/C snv 8.7E-02 0.700 1.000 1 2011 2011
dbSNP: rs11135484
rs11135484
1 1.000 0.040 5 96886185 intron variant A/G snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs11204885
rs11204885
1 1.000 0.040 1 151775494 missense variant A/G;T snv 0.23 0.20 0.700 1.000 1 2011 2011
dbSNP: rs11754464
rs11754464
1 1.000 0.040 6 31755958 intron variant C/T snv 4.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs11918142
rs11918142
1 1.000 0.040 3 160189298 intron variant T/C snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs11937871
rs11937871
1 1.000 0.040 4 103871299 upstream gene variant C/T snv 0.27 0.700 1.000 1 2011 2011
dbSNP: rs11987150
rs11987150
1 1.000 0.040 8 41560644 intron variant G/A snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs12429186
rs12429186
1 1.000 0.040 13 33718141 regulatory region variant T/C snv 2.7E-02 0.700 1.000 1 2011 2011
dbSNP: rs12614
rs12614
5 0.851 0.160 6 31946402 missense variant C/G;T snv 4.1E-06; 0.12 0.700 1.000 1 2012 2012
dbSNP: rs13206743
rs13206743
1 1.000 0.040 6 52152310 upstream gene variant T/C snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs1328626
rs1328626
1 1.000 0.040 13 36204635 intron variant C/A snv 0.15 0.010 1.000 1 2015 2015