Rs380390
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs380390 |
| hapmap | rs380390 |
| hgdp | rs380390 |
| ensembl | rs380390 |
| gopubmed | rs380390 |
| scholar | rs380390 |
| rs380390 | |
| pharmgkb | rs380390 |
| hgvbaseg2p | rs380390 |
| medrefsnp | rs380390 |
| 23andMe | rs380390 |
| SNP Nexus |
| Gene | CFH |
| Chromosome | 1 |
| Orientation | minus |
| Position | 194967674 |
| Genotype | Effect |
|---|---|
| rs380390(C;C) | increased risk for ARMD |
| rs380390(C;G) | None |
| rs380390(G;G) | None |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs380390(C;C) | 2.12.1 | increased risk for ARMD |
| Rs380390(C;G) | None | |
| Rs380390(G;C) | ||
| Rs380390(G;G) | None |
rs3753394, rs800292, rs1061147, rs1061170, rs380390, and rs1329428
CFH variations appear to contribute to ARMD in Caucasians, but not in Japanese [PMID 16710702]
| ? | (C;C) (C;G) (G;G) |
|---|---|
|
| |
| 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 |
Related to MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4
according to omim 610698. See also
Related to COMPLEMENT FACTOR H; CFH
according to omim 134370. See also
Related to EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
according to omim 609413. See also
| PharmGKB | PA162356593 |
| Name | |
| 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). |
| Gene | CFH |
| Featue | |
| Evidence | PubMed ID:15761122; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Macular Degeneration |
| Curation Level | Non-Curated |
