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: rs72470545
rs72470545
6 0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03 0.010 1.000 1 2016 2016