CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913051
rs121913051
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
G 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs121913055
rs121913055
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
G 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs121913059
rs121913059
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C1853147
Disease:
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs121913059
rs121913059
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C1853147
Disease:
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
T 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs121913059
rs121913059
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency
T 0.800 CausalMutation CLINVAR
dbSNP: rs121913059
rs121913059
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency
0.800 GeneticVariation UNIPROT
dbSNP: rs460897
rs460897
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
T 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs460897
rs460897
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome
T 0.750 CausalMutation CLINVAR
dbSNP: rs460184
rs460184
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome
C 0.730 CausalMutation CLINVAR
dbSNP: rs1061170
rs1061170
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0730295
Disease:
BASAL LAMINAR DRUSEN (disorder)
C 0.720 CausalMutation CLINVAR
dbSNP: rs1061170
rs1061170
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C1853147
Disease:
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
C 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1131690796
rs1131690796
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs121913052
rs121913052
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency
C 0.700 CausalMutation CLINVAR
dbSNP: rs121913053
rs121913053
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs121913054
rs121913054
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913056
rs121913056
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs121913057
rs121913057
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs121913058
rs121913058
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0398777
Disease:
Complement Factor H Deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913059
rs121913059
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs121913060
rs121913060
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs121913061
rs121913061
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0730295
Disease:
BASAL LAMINAR DRUSEN (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913062
rs121913062
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0730295
Disease:
BASAL LAMINAR DRUSEN (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913063
rs121913063
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1410996
rs1410996
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C1853147
Disease:
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
G 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs148165372
rs148165372
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C2749604
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation UNIPROT