rs514943
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs514943(A;A) |
| Make rs514943(A;G) |
| Make rs514943(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 196694783 |
| Gene | CFH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs514943 |
| dbSNP (classic) | rs514943 |
| ClinGen | rs514943 |
| ebi | rs514943 |
| HLI | rs514943 |
| Exac | rs514943 |
| Gnomad | rs514943 |
| Varsome | rs514943 |
| LitVar | rs514943 |
| Map | rs514943 |
| PheGenI | rs514943 |
| Biobank | rs514943 |
| 1000 genomes | rs514943 |
| hgdp | rs514943 |
| ensembl | rs514943 |
| geneview | rs514943 |
| scholar | rs514943 |
| rs514943 | |
| pharmgkb | rs514943 |
| gwascentral | rs514943 |
| openSNP | rs514943 |
| 23andMe | rs514943 |
| SNPshot | rs514943 |
| SNPdbe | rs514943 |
| MSV3d | rs514943 |
| GWAS Ctlg | rs514943 |
| GMAF | 0.2342 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 21882633] [Influence of genetic mutations on clinical presentation of subretinal neovascularization. Report 1: The impact of CFH and IL-8 genes polymorphism]
[PMID 16936733
] CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.
