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: rs1064039
rs1064039
5 0.846 0.143 20 23637790 missense variant C/G,T snp 0.20 0.21 0.010 1.000 1 2011 2011
dbSNP: rs121912438
rs121912438
47 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121913223
rs121913223
2 1.000 0.036 5 80633904 missense variant T/A snp 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs12252
rs12252
6 0.878 0.071 11 320772 splice region variant A/G snp 0.13 0.13 0.010 1.000 1 2017 2017
dbSNP: rs28934908
rs28934908
21 0.715 0.250 X 154031409 missense variant G/A,T snp 5.5E-06 0.010 1.000 1 2002 2002
dbSNP: rs28939711
rs28939711
10 0.756 0.107 10 99724057 stop gained G/A snp 3.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs397514662
rs397514662
9 0.769 0.107 10 99716419 stop lost A/C,G snp 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs398122370
rs398122370
7 0.821 0.143 20 4699851 missense variant G/C snp 0.010 1.000 1 2000 2000
dbSNP: rs587777162
rs587777162
3 1.000 20 63495972 missense variant C/T snp 0.010 1.000 1 2015 2015
dbSNP: rs74315322
rs74315322
2 1.000 0.036 1 154275165 stop gained C/T snp 3.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs749191312
rs749191312
2 1.000 0.071 20 18497075 synonymous variant C/T snp 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs771884087
rs771884087
2 1.000 0.071 20 45253726 synonymous variant T/C snp 0.010 1.000 1 2014 2014
dbSNP: rs80358261
rs80358261
2 1.000 0.143 14 74486404 missense variant C/T snp 1.7E-05 0.010 1.000 1 2006 2006