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: rs1131692060
rs1131692060
1 1.000 X 108601404 missense variant G/T snv 0.700 0
dbSNP: rs756101090
rs756101090
1 1.000 20 62330867 missense variant G/A snv 4.1E-05 8.4E-05 0.700 0
dbSNP: rs104886142
rs104886142
10 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.010 1.000 1 2012 2012
dbSNP: rs11089788
rs11089788
5 0.851 0.120 22 36355056 intron variant C/A snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs188942711
rs188942711
9 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs61747728
rs61747728
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs754313620
rs754313620
2 0.925 0.080 14 104714452 missense variant T/C;G snv 7.0E-06 0.010 1.000 1 2018 2018