CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
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: rs800292
rs800292 		0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.100 1.000 12 2008 2017
dbSNP: rs1061170
rs1061170 		0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.060 0.833 6 2008 2013
dbSNP: rs3753394
rs3753394 		0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.020 1.000 2 2008 2009
dbSNP: rs1065489
rs1065489 		0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 < 0.001 1 2015 2015
dbSNP: rs1329428
rs1329428 		0.807 0.160 1 196733680 intron variant C/T snv 0.44
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2016 2016
dbSNP: rs1410996
rs1410996 		0.807 0.240 1 196727803 intron variant G/A snv 0.46
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2010 2010
dbSNP: rs2274700
rs2274700 		0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2015 2015