rs1061147
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2.2 | 2.76x increased risk for Age Related Macular Degeneration. |
| (A;C) | 1 | Normal 0.97x risk for Age Related Macular Degeneration. |
| (C;C) | 2.2 | Reduced 0.34x risk of Age Related Macular Degeneration. |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 196685194 |
| Gene | CFH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1061147 |
| dbSNP (classic) | rs1061147 |
| ClinGen | rs1061147 |
| ebi | rs1061147 |
| HLI | rs1061147 |
| Exac | rs1061147 |
| Gnomad | rs1061147 |
| Varsome | rs1061147 |
| LitVar | rs1061147 |
| Map | rs1061147 |
| PheGenI | rs1061147 |
| Biobank | rs1061147 |
| 1000 genomes | rs1061147 |
| hgdp | rs1061147 |
| ensembl | rs1061147 |
| geneview | rs1061147 |
| scholar | rs1061147 |
| rs1061147 | |
| pharmgkb | rs1061147 |
| gwascentral | rs1061147 |
| openSNP | rs1061147 |
| 23andMe | rs1061147 |
| SNPshot | rs1061147 |
| SNPdbe | rs1061147 |
| MSV3d | rs1061147 |
| GWAS Ctlg | rs1061147 |
| GMAF | 0.2952 |
| Max Magnitude | 2.2 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
may influence age related macular degeneration (damage to the eye with ageing) when part of the haplotype of rs1061170 rs3753394 rs800292 rs1329428 (TGTC), but does not appear to do so alone. [PMID 17167412]
age related macular degeneration [PMID 15870199
]
[PMID 16936733] CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.
[PMID 18043728] Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.
[PMID 19026761] Molecular pathology of age-related macular degeneration.
[PMID 20339564] Risk factors for age-related maculopathy.
| GWAS snp | |
|---|---|
| PMID | [PMID 23326517]
|
| Trait | Age-related macular degeneration |
| Title | Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. |
| Risk Allele | A |
| P-val | 7E-32 |
| Odds Ratio | 1.40 [1.32-1.48] |
| ClinVar | |
|---|---|
| Risk | Rs1061147(C;C) |
| Alt | Rs1061147(C;C) |
| Reference | Rs1061147(A;A) |
| Significance | Non-pathogenic |
| Disease | Macular degeneration Basal laminar drusen Mesangiocapillary glomerulonephritis Atypical hemolytic uremic syndrome |
| Variation | info |
| Gene | CFH |
| CLNDBN | Macular degeneration Basal laminar drusen Mesangiocapillary glomerulonephritis, type II Atypical hemolytic uremic syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.196654324A>C |
| CLNSRC | |
| CLNACC | RCV000267123.1, RCV000305955.1, RCV000354801.1, RCV000358116.1, |
