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: rs397515474
rs397515474
1 1.000 0.080 12 12179937 missense variant C/T snv 1.2E-05 2.1E-05 0.800 1.000 2 2007 2013