rs1061170, CFH

N. diseases: 72
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.
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
24 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2018 2018
Blindness
CUI: C0456909
Disease: Blindness
34 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.050 1.000 5 2005 2011
Sudden sensorineural hearing loss
CUI: C4275242
Disease: Sudden sensorineural hearing loss
38 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2012 2012
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
40 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1 2006 2006
Atypical Hemolytic Uremic Syndrome
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
42 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2007 2007
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2007 2007
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
56 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2009 2009
Lupus Nephritis
CUI: C0024143
Disease: Lupus Nephritis
64 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2017 2017
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
67 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.060 0.833 6 2008 2013
exudative macular degeneration
CUI: C2237660
Disease: exudative macular degeneration
69 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.700 1.000 1 2012 2012
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
81 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.760 1.000 7 2006 2018
Exudative age-related macular degeneration
CUI: C0271084
Disease: Exudative age-related macular degeneration
109 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.800 0.950 20 2005 2018
Septicemia
CUI: C0036690
Disease: Septicemia
141 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.020 1.000 2 2010 2020
Sepsis
CUI: C0243026
Disease: Sepsis
144 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.020 1.000 2 2010 2020
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
194 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2009 2009
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
243 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1 2007 2007
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.030 1.000 3 2008 2012
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
269 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.100 0.889 27 2006 2019
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2007 2007
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.030 1.000 3 2008 2012
Pseudoxanthoma Elasticum
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
323 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1 2008 2008
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2011 2011
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
408 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1 2006 2006
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
425 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2009 2009
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
440 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.040 1.000 4 2006 2011