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: rs320995
rs320995
4 0.851 0.240 X 78272820 missense variant G/A;C;T snv 0.73 0.060 1.000 6 2006 2009