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: rs1057519947
rs1057519947
9 0.790 0.160 19 52212730 missense variant G/A snv 0.700 1.000 1 2016 2016