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: rs150484080
rs150484080
2 0.925 0.040 X 77684088 missense variant G/A snv 7.2E-05 6.6E-05 0.010 1.000 1 2016 2016