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: rs12563308
rs12563308
2 0.925 0.080 1 62604040 missense variant T/A;C snv 1.9E-02 0.010 1.000 1 2018 2018