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: rs121909627
rs121909627
8 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 0.030 1.000 3 1999 2014