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: rs118192170
rs118192170
6 0.882 0.120 19 38584989 missense variant T/A;C snv 0.010 1.000 1 2011 2011