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: rs483352867
rs483352867
8 0.827 0.400 11 4074620 missense variant C/T snv 0.010 1.000 1 2018 2018