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: rs397514705
rs397514705
1 1.000 0.080 22 50678666 missense variant C/G snv 0.800 1.000 3 2013 2013