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: rs1057521721
rs1057521721
5 0.851 0.200 X 123428020 missense variant G/A snv 0.700 1.000 1 2017 2017