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: rs121913454
rs121913454
2 0.925 0.080 9 130874969 missense variant A/G snv 0.710 1.000 8 2002 2016