C2, complement C2, 717

N. diseases: 71; N. variants: 39
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs9332739
rs9332739
0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
Eye Diseases 0.710 1.000 2 2012 2012