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: rs1060501201
rs1060501201
4 0.925 0.080 17 7674190 missense variant T/C;G snv 0.010 1.000 1 2017 2017