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: rs377423839
rs377423839
2 0.925 0.080 3 133400418 missense variant G/A snv 5.2E-05 1.4E-05 0.010 1.000 1 2014 2014