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: rs10811661
rs10811661
22 0.724 0.400 9 22134095 intergenic variant T/C snv 0.14 0.020 1.000 2 2015 2018
dbSNP: rs1260333
rs1260333
12 0.882 0.160 2 27525757 downstream gene variant A/G snv 0.58 0.020 1.000 2 2013 2018
dbSNP: rs11774572
rs11774572
2 1.000 0.040 8 11589291 regulatory region variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs12149545
rs12149545
7 0.851 0.080 16 56959249 upstream gene variant G/A snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs1263163
rs1263163
2 11 116802796 intergenic variant G/A snv 0.10 0.010 1.000 1 2017 2017
dbSNP: rs3764261
rs3764261
26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs633389
rs633389
4 1.000 0.040 11 116796621 upstream gene variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs7652589
rs7652589
13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs2230808
rs2230808
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2009 2009
dbSNP: rs2472386
rs2472386
3 1.000 0.040 9 104839260 intron variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs4149339
rs4149339
2 1.000 0.040 9 104782875 3 prime UTR variant G/A snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs4743763
rs4743763
2 1.000 0.040 9 104830901 intron variant A/C;T snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs9282541
rs9282541
13 0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03 0.010 1.000 1 2011 2011
dbSNP: rs2285666
rs2285666
4 0.925 0.160 X 15592225 splice region variant C/T snv 6.2E-06; 0.28 0.23 0.020 1.000 2 2012 2018
dbSNP: rs4646188
rs4646188
4 0.925 0.120 X 15583220 intron variant A/G snv 9.1E-02 0.020 0.500 2 2018 2018
dbSNP: rs879922
rs879922
4 0.882 0.160 X 15572684 intron variant C/G snv 0.020 1.000 2 2018 2018
dbSNP: rs1978124
rs1978124
2 X 15599940 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2074192
rs2074192
9 0.827 0.160 X 15564667 intron variant C/T snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs2106809
rs2106809
8 0.827 0.120 X 15599938 intron variant A/G snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs233575
rs233575
1 X 15564843 intron variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs4240157
rs4240157
4 0.925 0.080 X 15568841 intron variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs4646142
rs4646142
1 X 15584941 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs4646155
rs4646155
3 0.925 0.080 X 15579386 intron variant C/T snv 3.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs4646156
rs4646156
2 X 15578920 intron variant A/T snv 0.010 1.000 1 2018 2018
dbSNP: rs4830542
rs4830542
3 0.925 0.080 X 15558483 downstream gene variant C/G;T snv 0.010 1.000 1 2018 2018