{{Rsnum
|rsid=380390
|Gene=CFH
|Chromosome=1
|position=196731921
|Orientation=minus
|GMAF=0.2576
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=CFH
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 21.5 | 46.2 | 32.3
| HCB | 0.0 | 15.6 | 84.4
| JPT | 2.3 | 9.1 | 88.6
| YRI | 3.2 | 39.7 | 57.1
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 15.6 | 84.4
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}linked to blindness in old age

[[rs3753394]], [[rs800292]], [[rs1061147]], [[rs1061170]], [[rs380390]], and [[rs1329428]]

[[CFH]] variations appear to contribute to [[ARMD]] in Caucasians, but not in Japanese {{PMID|16710702}}

{{GWAS Summary
|SNP=rs380390
|PubMedID=15761122
|Condition=Age-related macular degeneration
|Gene=CFH
|Risk Allele=C
|pValue=4.00E-008
|OR=4.6
|95CI=2.0-11
|OA=1
}}

{{omim
|desc=MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4
|id=610698
|rsnum=380390
}}

{{omim
|desc=COMPLEMENT FACTOR H; CFH
|id=134370
|rsnum=380390
}}

{{omim
|id=609413
|desc=EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
|rsnum=380390
}}

{{PharmGKB
|RSID=rs380390
|Name_s=
|Gene_s=CFH
|Feature=
|Evidence=PubMed ID:15761122; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Complement factor H polymorphism in age-related macular degeneration (Initial Sample Size: 96 cases, 50 controls; Replication Sample Size: NR; Risk Allele: rs380390-C).
|Drugs=
|Drug Classes=
|Diseases=Macular Degeneration
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356593
}}

{{omim
|id=609413
|rsnum=380390
|variant=0010
}}

{{PMID Auto
|PMID=21882633
|Title=[Influence of genetic mutations on clinical presentation of subretinal neovascularization. Report 1: The impact of CFH and IL-8 genes polymorphism]
}}

{{PMID Auto
|PMID=16754848
|Title=Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition.
|OA=1
}}

{{PMID Auto
|PMID=17167412
|Title=Association of complement factor H polymorphisms with exudative age-related macular degeneration.
}}

{{PMID Auto
|PMID=17917691
|Title=Genetic markers and biomarkers for age-related macular degeneration.
|OA=1
}}

{{PMID Auto
|PMID=18048322
|Title=A forest-based approach to identifying gene and gene gene interactions.
|OA=1
}}

{{PMID Auto
|PMID=18601744
|Title=Combining identity by descent and association in genetic case-control studies.
|OA=1
}}

{{PMID Auto
|PMID=18718667
|Title=The HtrA1 promoter polymorphism, smoking, and age-related macular degeneration in multiple case-control samples.
|OA=1
}}

{{PMID Auto
|PMID=19026761
|Title=Molecular pathology of age-related macular degeneration.
|OA=1
}}

{{PMID Auto
|PMID=19208169
|Title=A random forest approach to the detection of epistatic interactions in case-control studies.
|OA=1
}}

{{PMID Auto
|PMID=19412524
|Title=Epistatic module detection for case-control studies: a Bayesian model with a Gibbs sampling strategy.
|OA=1
}}

{{PMID Auto
|PMID=19958499
|Title=A particle swarm based hybrid system for imbalanced medical data sampling.
|OA=1
}}

{{PMID Auto
|PMID=20122224
|Title=A multi-filter enhanced genetic ensemble system for gene selection and sample classification of microarray data.
|OA=1
}}

{{PMID Auto
|PMID=20181037
|Title=Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration.
|OA=1
}}

{{PMID Auto
|PMID=20881291
|Title=Persons with age-related maculopathy risk genotypes and clinically normal eyes have reduced mesopic vision.
|OA=1
}}

{{PMID Auto
|PMID=21342556
|Title=The choice of null distributions for detecting gene-gene interactions in genome-wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=22618592
|Title=Association of genetic polymorphisms and age-related macular degeneration in chinese population.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs380390
|overall_frequency_n=91
|overall_frequency_d=128
|overall_frequency=0.710938
|n_genomes=50
|n_genomes_annotated=0
|n_haplomes=82
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}