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.
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
Matrix Metalloproteinase 8 Measurement
CUI: C2698027
Disease: 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
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
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
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
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
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
Retinal Pigment Epithelial Detachment
CUI: C0339546
Disease: Retinal Pigment Epithelial Detachment
3 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1 2011 2011
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
Uveitis, Posterior
CUI: C0042167
Disease: Uveitis, Posterior
5 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2012 2012
Thrombotic Microangiopathies
CUI: C2717961
Disease: Thrombotic Microangiopathies
8 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2017 2017
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
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
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
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
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
Nephritis
CUI: C0027697
Disease: Nephritis
40 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2011 2011
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
Lupus Nephritis
CUI: C0024143
Disease: Lupus Nephritis
64 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2017 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
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
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
Exudative age-related macular degeneration
CUI: C0271084
Disease: 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
IGA Glomerulonephritis
CUI: C0017661
Disease: IGA Glomerulonephritis
130 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2018 2018
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