Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.900 0.936 218 2005 2019
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		0.800 0.950 20 2005 2018
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		0.760 1.000 7 2006 2018
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		0.720 1.000 2 2007 2012
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		0.700 1.000 1 2012 2012
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C1853147
Disease: MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) 		0.700 0
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 0.889 27 2006 2019
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.060 1.000 6 2006 2011
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.060 1.000 6 2006 2011
dbSNP: rs1061170
rs1061170
CFH
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: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0456909
Disease: Blindness
Blindness 		0.050 1.000 5 2005 2011
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C1260959
Disease: Drusen
Drusen 		0.050 1.000 5 2008 2015
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C1720452
Disease: Soft drusen
Soft drusen 		0.040 1.000 4 2006 2018
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.040 1.000 4 2007 2009
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen 		0.040 1.000 4 2016 2019
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.040 1.000 4 2006 2011
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 1.000 3 2008 2016
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.030 1.000 3 2008 2012
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.030 0.333 3 2006 2007
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.030 1.000 3 2008 2012
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.020 1.000 2 2010 2015
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 0.500 2 2008 2012
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C2609315
Disease: Retinal angiomatous proliferation
Retinal angiomatous proliferation 		0.020 0.500 2 2010 2017
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0243026
Disease: Sepsis
Sepsis 		0.020 1.000 2 2010 2020