rs800292, CFH

N. diseases: 29
Source: BEFREE ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
390 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.900 0.980 48 2005 2019
Exudative age-related macular degeneration
CUI: C0271084
Disease: Exudative age-related macular degeneration
45 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.740 1.000 4 2014 2017
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
67 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.100 1.000 12 2008 2017
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
80 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.100 1.000 10 2008 2018
Central Serous Chorioretinopathy
CUI: C0730328
Disease: Central Serous Chorioretinopathy
10 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.020 0.500 2 2016 2018
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
635 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.020 1.000 2 2011 2011
Membranoproliferative Glomerulonephritis, Type II
CUI: C0268743
Disease: Membranoproliferative Glomerulonephritis, Type II
3 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.020 1.000 2 2008 2011
Reticular pseudodrusen
CUI: C2609282
Disease: Reticular pseudodrusen
10 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.020 1.000 2 2014 2018
Retinal angiomatous proliferation
CUI: C2609315
Disease: Retinal angiomatous proliferation
4 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.020 1.000 2 2010 2017
Retinal pigment epithelium atrophy
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
2 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.020 1.000 2 2016 2017
Acute anterior uveitis
CUI: C0701807
Disease: Acute anterior uveitis
30 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2012 2012
Acute central serous chorioretinopathy
CUI: C0730315
Disease: Acute central serous chorioretinopathy
3 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2019 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
968 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2016 2016
Anterior uveitis
CUI: C0042165
Disease: Anterior uveitis
10 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2012 2012
Atypical Hemolytic Uremic Syndrome
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
31 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2011 2011
Choroidal vascular hyperpermeability
CUI: C4703391
Disease: Choroidal vascular hyperpermeability
3 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2014 2014
Diabetes
CUI: C0011847
Disease: Diabetes
611 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2014 2014
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
714 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2014 2014
Diabetic Retinopathy
CUI: C0011884
Disease: Diabetic Retinopathy
159 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2013 2013
Disseminated Intravascular Coagulation
CUI: C0012739
Disease: Disseminated Intravascular Coagulation
3 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2017 2017
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
32 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2016 2016
Glomerulonephritis, Membranoproliferative
CUI: C0017662
Disease: Glomerulonephritis, Membranoproliferative
3 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2012 2012
IGA Glomerulonephritis
CUI: C0017661
Disease: IGA Glomerulonephritis
112 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2018 2018
Lupus Nephritis
CUI: C0024143
Disease: Lupus Nephritis
52 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2017 2017
Nephritis
CUI: C0027697
Disease: Nephritis
39 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2011 2011