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: rs4129009
rs4129009
6 0.882 0.120 4 38773268 missense variant T/A;C;G snv 0.17 0.13 0.010 < 0.001 1 2016 2016