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: rs104886088
rs104886088
3 0.882 0.160 X 108582920 stop gained G/A;T snv 0.010 1.000 1 1992 1992
dbSNP: rs104886116
rs104886116
3 0.882 0.160 X 108591635 missense variant G/A snv 0.010 1.000 1 2000 2000
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 2007 2007
dbSNP: rs200107989
rs200107989
3 0.882 0.280 2 227294985 missense variant C/T snv 2.0E-04 3.6E-04 0.010 1.000 1 2012 2012
dbSNP: rs72648341
rs72648341
1 1.000 0.160 17 50194792 missense variant C/T snv 0.010 1.000 1 1992 1992
dbSNP: rs766550724
rs766550724
3 0.882 0.280 2 227007354 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs768607170
rs768607170
1 1.000 0.160 10 100749772 frameshift variant G/-;GG;GGG delins 0.010 1.000 1 2012 2012
dbSNP: rs77453353
rs77453353
1 1.000 0.160 10 100749772 frameshift variant G/-;GG;GGG delins 0.010 1.000 1 2012 2012