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: rs397514735
rs397514735
2 0.925 0.080 19 10795378 missense variant T/G snv 0.800 1.000 1 2013 2013