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: rs104894761
rs104894761
3 0.882 0.240 X 153905915 missense variant C/G;T snv 5.7E-06 0.810 1.000 2 2005 2012
dbSNP: rs104894756
rs104894756
3 0.882 0.240 X 153905916 missense variant G/A;T snv 5.7E-06 0.800 1.000 1 2005 2005
dbSNP: rs35095494
rs35095494
1 1.000 0.160 2 236581153 missense variant G/A;T snv 4.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs374029186
rs374029186
1 1.000 0.160 8 26756747 3 prime UTR variant G/A snv 5.2E-05 3.5E-05 0.010 1.000 1 2019 2019