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: rs2228391
rs2228391
3 0.882 0.160 6 32829996 missense variant T/C snv 1.3E-02 3.9E-03 0.700 1.000 1 2015 2015