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: rs12720062
rs12720062
2 0.925 0.080 2 219575194 missense variant G/A snv 2.3E-02 1.7E-02 0.080 0.625 8 2002 2014