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: rs398122917
rs398122917
5 0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04 0.800 1.000 1 2012 2012