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: rs137853315
rs137853315
3 0.882 0.200 X 154368081 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs863223491
rs863223491
2 0.925 0.160 2 189062865 splice region variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs121912932
rs121912932
2 0.925 0.160 9 134820135 missense variant G/A snv 0.020 1.000 2 2000 2002
dbSNP: rs780400029
rs780400029
2 0.925 0.200 9 134835169 missense variant A/G snv 1.6E-04 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs61735045
rs61735045
3 0.882 0.160 9 134750808 missense variant G/A snv 3.5E-02 3.1E-02 0.020 1.000 2 2000 2002
dbSNP: rs1186920009
rs1186920009
2 0.925 0.200 7 94427227 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs72645347
rs72645347
10 0.790 0.280 17 50196337 missense variant G/A snv 0.030 1.000 3 2007 2020
dbSNP: rs72654799
rs72654799
3 0.882 0.200 17 50188541 missense variant G/A;C snv 6.4E-05 0.020 1.000 2 2007 2017
dbSNP: rs67682641
rs67682641
6 0.807 0.240 17 50194375 missense variant C/A;T snv 0.010 1.000 1 2002 2002
dbSNP: rs72648365
rs72648365
2 0.925 0.240 17 50193990 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs72653170
rs72653170
10 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs72656307
rs72656307
2 0.925 0.240 17 50187968 missense variant G/A snv 2.4E-05 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs886440452
rs886440452
2 0.925 0.200 17 50189478 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs28937869
rs28937869
4 0.851 0.200 5 177608994 missense variant C/T snv 4.8E-05 9.1E-05 0.020 1.000 2 2008 2010