rs380390
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2.1 | increased risk for ARMD |
| (C;G) | None | |
| (G;G) | 0 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 196731921 |
| Gene | CFH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs380390 |
| dbSNP (classic) | rs380390 |
| ClinGen | rs380390 |
| ebi | rs380390 |
| HLI | rs380390 |
| Exac | rs380390 |
| Gnomad | rs380390 |
| Varsome | rs380390 |
| LitVar | rs380390 |
| Map | rs380390 |
| PheGenI | rs380390 |
| Biobank | rs380390 |
| 1000 genomes | rs380390 |
| hgdp | rs380390 |
| ensembl | rs380390 |
| geneview | rs380390 |
| scholar | rs380390 |
| rs380390 | |
| pharmgkb | rs380390 |
| gwascentral | rs380390 |
| openSNP | rs380390 |
| 23andMe | rs380390 |
| SNPshot | rs380390 |
| SNPdbe | rs380390 |
| MSV3d | rs380390 |
| GWAS Ctlg | rs380390 |
| GMAF | 0.2576 |
| Max Magnitude | 2.1 |
| ? | (C;C) (C;G) (G;G) | 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 | |
|---|---|
| SNP | rs380390 |
| PubMedID | [PMID 15761122 ]
|
| Condition | Age-related macular degeneration |
| Gene | CFH |
| Risk Allele | C |
| pValue | 4.00E-008 |
| OR | 4.6 |
| 95% CI | 2.0-11 |
[PMID 21882633] [Influence of genetic mutations on clinical presentation of subretinal neovascularization. Report 1: The impact of CFH and IL-8 genes polymorphism]
[PMID 16754848] Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition.
[PMID 17167412] Association of complement factor H polymorphisms with exudative age-related macular degeneration.
[PMID 17917691] Genetic markers and biomarkers for age-related macular degeneration.
[PMID 18048322] A forest-based approach to identifying gene and gene gene interactions.
[PMID 18601744] Combining identity by descent and association in genetic case-control studies.
[PMID 18718667] The HtrA1 promoter polymorphism, smoking, and age-related macular degeneration in multiple case-control samples.
[PMID 19026761] Molecular pathology of age-related macular degeneration.
[PMID 19208169] A random forest approach to the detection of epistatic interactions in case-control studies.
[PMID 19412524] Epistatic module detection for case-control studies: a Bayesian model with a Gibbs sampling strategy.
[PMID 19958499] A particle swarm based hybrid system for imbalanced medical data sampling.
[PMID 20122224] A multi-filter enhanced genetic ensemble system for gene selection and sample classification of microarray data.
[PMID 20181037] Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration.
[PMID 20881291] Persons with age-related maculopathy risk genotypes and clinically normal eyes have reduced mesopic vision.
[PMID 21342556] The choice of null distributions for detecting gene-gene interactions in genome-wide association studies.
[PMID 22618592] Association of genetic polymorphisms and age-related macular degeneration in chinese population.
