C2, complement C2, 717

N. diseases: 71; N. variants: 39
Disease: Polypoidal choroidal vasculopathy ×
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: rs547154
rs547154 		0.882 0.160 6 31943161 intron variant G/T snv 0.12
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.050 1.000 5 2009 2015
dbSNP: rs138195505
rs138195505 		0.925 0.040 6 31933645 missense variant G/A;T snv 2.0E-05; 1.6E-05
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2012 2012
dbSNP: rs9332739
rs9332739 		0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2009 2009