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: rs5030776
rs5030776
2 0.925 0.120 11 30233615 missense variant T/G snv 0.010 1.000 1 2002 2002