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: rs398122394
rs398122394
17 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013