rs800292, CFH

N. diseases: 33
Source: ALL
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
663 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.900 0.980 51 2005 2019
Myeloperoxidase Measurement
CUI: C2698399
Disease: Myeloperoxidase Measurement
16 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.800 1.000 1 2013 2013
Exudative age-related macular degeneration
109 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.740 1.000 5 2014 2017
exudative macular degeneration
CUI: C2237660
Disease: exudative macular degeneration
69 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.700 1.000 1 2017 2017
Matrix Metalloproteinase 8 Measurement
2 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.700 1.000 1 2017 2017
von Willebrand's factor (lab test)
CUI: C2239219
Disease: von Willebrand's factor (lab test)
427 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.700 1.000 1 2013 2013
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
269 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
1172 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
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
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
1843 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
20 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
42 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
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
710 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
824 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
213 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
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
81 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2016 2016