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: rs2232775
rs2232775
1 1.000 0.080 19 8308268 missense variant T/C snv 8.3E-02 0.16 0.010 1.000 1 2012 2012