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: rs179008
rs179008
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2018 2018
dbSNP: rs3853839
rs3853839
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018