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: rs121912891
rs121912891
5 0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06 0.020 1.000 2 2010 2018
dbSNP: rs1042034
rs1042034
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2007 2007
dbSNP: rs1193507525
rs1193507525
3 0.925 0.080 12 47980616 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs121912892
rs121912892
2 1.000 0.040 12 47981829 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2014 2014
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2007 2007
dbSNP: rs2267439
rs2267439
3 1.000 0.080 22 41841765 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2267443
rs2267443
5 0.882 0.120 22 41891450 intron variant A/G snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs2274755
rs2274755
5 0.882 0.040 20 46011053 splice region variant G/T snv 0.15 0.15 0.010 1.000 1 2017 2017
dbSNP: rs2453839
rs2453839
3 0.925 0.080 7 45913974 intron variant T/C snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs3135506
rs3135506
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs3219175
rs3219175
10 0.807 0.240 19 7668969 upstream gene variant G/A snv 5.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs34861192
rs34861192
1 19 7668689 upstream gene variant G/A snv 3.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs3745369
rs3745369
1 19 7670589 downstream gene variant G/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs632153
rs632153
2 11 116839523 intron variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs662799
rs662799
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs673548
rs673548
14 0.925 0.120 2 21014672 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs676210
rs676210
12 0.925 0.120 2 21008652 missense variant G/A;T snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs7408174
rs7408174
2 1.000 0.120 19 7668069 upstream gene variant C/G;T snv 0.010 1.000 1 2019 2019