rs121913059, CFH

N. diseases: 16
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.
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
CUI: C1853147
Disease: MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
5 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.800 1.000 5 2003 2015
Complement Factor H Deficiency
CUI: C0398777
Disease: Complement Factor H Deficiency
9 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.800 0
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.760 1.000 7 2015 2018
Exudative age-related macular degeneration
CUI: C0271084
Disease: Exudative age-related macular degeneration
109 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.700 1.000 1 2016 2016
exudative macular degeneration
CUI: C2237660
Disease: exudative macular degeneration
69 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.700 1.000 1 2016 2016
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
81 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.700 1.000 1 2016 2016
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
24 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.700 0
Atypical Hemolytic Uremic Syndrome
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
42 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.020 1.000 2 2008 2016
BASAL LAMINAR DRUSEN (disorder)
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
5 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2015 2015
C3 glomerulopathy
CUI: C4087273
Disease: C3 glomerulopathy
1 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2016 2016
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
194 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2009 2009
Drusen
CUI: C1260959
Disease: Drusen
18 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2015 2015
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
140 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2016 2016
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
425 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2009 2009
Unilateral agenesis of kidney
CUI: C0266294
Disease: Unilateral agenesis of kidney
7 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2009 2009
Unspecified visual loss
CUI: C3665346
Disease: Unspecified visual loss
11 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2015 2015