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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 < 0.001 1 2010 2010
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2006 2006
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs743572
rs743572
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs7483
rs7483
11 0.742 0.320 1 109737079 missense variant C/T snv 4.0E-06; 0.35 0.26 0.010 1.000 1 2017 2017
dbSNP: rs700519
rs700519
11 0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs4149117
rs4149117
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2013 2013
dbSNP: rs1004467
rs1004467
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.010 1.000 1 2013 2013
dbSNP: rs137852578
rs137852578
AR
10 0.827 0.080 X 67723710 missense variant A/G snv 0.020 1.000 2 2015 2018
dbSNP: rs12422149
rs12422149
7 0.827 0.120 11 75172532 missense variant G/A;T snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs1057519864
rs1057519864
AR
8 0.851 0.080 X 67723707 missense variant T/C snv 0.030 1.000 3 2013 2016
dbSNP: rs1047303
rs1047303
4 0.851 0.120 1 119514623 missense variant C/A snv 0.75 0.010 1.000 1 2019 2019
dbSNP: rs56350726
rs56350726
3 0.882 0.080 9 84285454 missense variant T/A;C snv 7.2E-02; 1.2E-05 0.020 1.000 2 2017 2018
dbSNP: rs1395
rs1395
4 0.882 0.200 2 27201768 missense variant G/A snv 0.62 0.55 0.010 1.000 1 2016 2016
dbSNP: rs2208532
rs2208532
3 0.882 0.080 2 31563919 intron variant G/A snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs676033
rs676033
3 0.882 0.080 2 31583901 upstream gene variant T/C snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs747099645
rs747099645
3 0.882 0.120 6 152061061 missense variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs6162
rs6162
3 0.925 0.080 10 102837224 synonymous variant G/A snv 0.42 0.40 0.010 1.000 1 2013 2013
dbSNP: rs1799811
rs1799811
1 1.000 0.080 11 67586108 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs2149556
rs2149556
1 1.000 0.080 9 5059440 intron variant C/T snv 0.64 0.010 1.000 1 2017 2017
dbSNP: rs4372063
rs4372063
1 1.000 0.080 9 5003338 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs5472
rs5472
1 1.000 0.080 16 72054568 5 prime UTR variant A/G snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs564250
rs564250
1 1.000 0.080 11 34437314 upstream gene variant T/A;C snv 0.010 1.000 1 2017 2017