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: rs2232367
rs2232367
1 1.000 0.120 X 49256855 splice region variant G/A snv 3.1E-02 3.0E-02 0.010 1.000 1 2010 2010