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: rs2904552
rs2904552
3 0.925 0.120 22 18918451 missense variant C/T snv 7.2E-02 0.800 1.000 3 2002 2007