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: rs781933275
rs781933275
HJV
1 1.000 0.160 1 146019620 missense variant C/A snv 8.1E-06 0.010 1.000 1 2008 2008