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: rs180177468
rs180177468
2 0.925 0.080 1 247424369 missense variant G/T snv 0.010 1.000 1 2006 2006