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: rs512715
rs512715
7 0.790 0.120 11 65423737 non coding transcript exon variant C/G snv 0.65 0.010 < 0.001 1 2019 2019