CFD, complement factor D, 1675

N. diseases: 83; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894667
rs104894667
Entrez Id: 1675
Gene Symbol: CFD
CFD
CUI: C0398764
Disease:
Complement Factor D Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs267606720
rs267606720
Entrez Id: 1675
Gene Symbol: CFD
CFD
CUI: C0398764
Disease:
Complement Factor D Deficiency
0.700 GeneticVariation UNIPROT
dbSNP: rs267606721
rs267606721
Entrez Id: 1675
Gene Symbol: CFD
CFD
CUI: C0398764
Disease:
Complement Factor D Deficiency
0.700 GeneticVariation UNIPROT
dbSNP: rs3826945
rs3826945
Entrez Id: 1675
Gene Symbol: CFD
CFD
CUI: C0242383
Disease:
Age related macular degeneration
0.020 GeneticVariation BEFREE We found no associations of <i>TLR3</i> (rs3775291), <i>CFD</i> (rs3826945), <i>FRK</i> (rs1999930) or <i>LIPC</i> (rs10468017) or <i>APOE</i> ε4 alleles with nvAMD or early AMD, nor between early AMD and rs1883025 or rs4711751. 29259020 2018
dbSNP: rs3826945
rs3826945
Entrez Id: 1675
Gene Symbol: CFD
CFD
CUI: C0242383
Disease:
Age related macular degeneration
0.020 GeneticVariation BEFREE Genetic association was found between CFD gene SNP rs3826945 and AMD (odds ratio 1.44; P = 0.028) in a small discovery case-control series (462 cases and 325 controls) and replicated in a combined cohorts meta-analysis of 4765 cases and 2693 controls, with an odds ratio of 1.11 (P = 0.032), with the association almost confined to females. 22003108 2011