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: rs121913458
rs121913458
1 1.000 0.080 9 130862969 missense variant G/C;T snv 0.700 1.000 6 2002 2014