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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
dbSNP: rs10827209
rs10827209
2 10 33198261 intron variant A/C snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs2885296
rs2885296
2 2 233750415 intron variant A/C snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs6575267
rs6575267
1 14 92580988 intron variant A/C snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs79666748
rs79666748
2 18 43280443 upstream gene variant A/C snv 7.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs9341664
rs9341664
2 6 77375469 intergenic variant A/C snv 0.51 0.700 1.000 1 2015 2015
dbSNP: rs4802
rs4802
2 11 123057914 synonymous variant A/C;G snv 4.1E-06; 0.32 0.700 1.000 1 2015 2015
dbSNP: rs7109445
rs7109445
2 11 123094779 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1015164
rs1015164
8 0.925 3 46410189 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10892961
rs10892961
2 11 123093392 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs396991
rs396991
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs179008
rs179008
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.020 1.000 2 2014 2017
dbSNP: rs4359426
rs4359426
3 0.925 0.120 16 57358821 missense variant A/C;T snv 0.92 0.94 0.010 1.000 1 2017 2017
dbSNP: rs10054178
rs10054178
2 5 24059742 intron variant A/G snv 7.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs11218976
rs11218976
2 11 123090950 intron variant A/G snv 0.41 0.700 1.000 1 2015 2015
dbSNP: rs11695484
rs11695484
3 2 233745803 intron variant A/G snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs11926663
rs11926663
2 3 119125638 intron variant A/G snv 1.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs12587266
rs12587266
1 14 92580298 intron variant A/G snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs1408270
rs1408270
1 6 25872956 intron variant A/G snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs396716
rs396716
1 1 161544806 missense variant A/G snv 7.2E-05 6.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs40837
rs40837
5 0.925 0.120 16 28499524 3 prime UTR variant A/G snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs4349147
rs4349147
1 16 3074919 intron variant A/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs4842407
rs4842407
4 0.882 0.200 12 78807293 intron variant A/G snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs4936767
rs4936767
2 11 123047451 upstream gene variant A/G snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs5010528
rs5010528
9 0.827 0.240 6 31273255 intron variant A/G snv 0.15 0.700 1.000 1 2017 2017