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: rs74315289
rs74315289
5 0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04 0.050 1.000 5 2003 2015