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: rs28933068
rs28933068
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 1996 1996
dbSNP: rs121909219
rs121909219
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.010 1.000 1 2000 2000
dbSNP: rs121908671
rs121908671
4 0.851 0.120 11 68357801 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs9651492
rs9651492
3 0.882 0.160 10 87933216 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs121917758
rs121917758
4 0.851 0.160 11 533883 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs61748404
rs61748404
3 0.882 0.120 X 154031373 missense variant G/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs863225264
rs863225264
6 0.827 0.240 1 11130747 missense variant C/T snv 0.020 1.000 2 2015 2016
dbSNP: rs765798990
rs765798990
2 0.925 0.120 1 9717609 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs794729664
rs794729664
3 0.925 0.240 10 87952170 stop gained T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs863225460
rs863225460
5 0.882 0.200 3 179199160 missense variant T/A snv 0.010 1.000 1 2016 2016