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: rs267606982
rs267606982
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.100 0.800 10 2000 2020
dbSNP: rs1223231582
rs1223231582
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.060 1.000 6 2001 2011
dbSNP: rs111033567
rs111033567
3 0.882 0.040 7 142750582 missense variant A/G snv 0.040 1.000 4 2000 2020
dbSNP: rs10273639
rs10273639
9 0.776 0.280 7 142749077 upstream gene variant T/A;C snv 0.820 0.667 3 2012 2020
dbSNP: rs111033566
rs111033566
11 0.742 0.280 7 142750600 missense variant A/C;T snv 0.030 1.000 3 1999 2011
dbSNP: rs12688220
rs12688220
5 0.827 0.200 X 107001537 upstream gene variant C/T snv 0.19 0.810 1.000 2 2012 2020
dbSNP: rs2647087
rs2647087
2 1.000 0.040 6 32713272 upstream gene variant A/C snv 0.29 0.020 1.000 2 2014 2018
dbSNP: rs397507442
rs397507442
2 0.925 0.040 7 142750579 missense variant A/G snv 0.020 1.000 2 2000 2006
dbSNP: rs7057398
rs7057398
5 0.827 0.080 X 106901299 intron variant T/C snv 0.41 0.710 1.000 2 2012 2020
dbSNP: rs104894365
rs104894365
9 0.827 0.320 12 25245345 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs12008279
rs12008279
3 0.882 0.080 X 106917472 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12014762
rs12014762
3 0.882 0.080 X 106940440 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs13228878
rs13228878
1 1.000 0.040 7 142765617 intron variant G/A snv 0.51 0.010 < 0.001 1 2019 2019
dbSNP: rs1335550286
rs1335550286
2 1.000 0.040 19 44909005 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs139232307
rs139232307
1 1.000 0.040 7 142773300 missense variant G/A snv 1.4E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs145867820
rs145867820
1 1.000 0.040 7 142751775 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs2995271
rs2995271
2 0.925 0.040 10 30230903 regulatory region variant C/T snv 0.64 0.800 1.000 1 2012 2012
dbSNP: rs379742
rs379742
1 1.000 0.040 X 106250703 intergenic variant G/A snv 0.17 0.800 1.000 1 2012 2012
dbSNP: rs42490
rs42490
5 0.882 0.160 8 89766285 intron variant G/A snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs4409525
rs4409525
2 0.925 0.040 X 106897095 intron variant G/A snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs4437130
rs4437130
2 1.000 0.040 3 2035283 intergenic variant G/A snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs5917027
rs5917027
1 1.000 0.040 X 106919404 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs61734659
rs61734659
8 0.790 0.160 7 142774035 missense variant G/A snv 1.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs62228256
rs62228256
1 1.000 0.040 20 51837908 intron variant C/T snv 2.7E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs62561366
rs62561366
2 1.000 0.040 9 95555669 intergenic variant A/T snv 3.9E-02 0.700 1.000 1 2018 2018