rs3750848
| Orientation | minus |
| Stabilized | minus |
| Make rs3750848(A;A) |
| Make rs3750848(A;C) |
| Make rs3750848(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 122455799 |
| Gene | ARMS2, LOC105378525 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3750848 |
| dbSNP (classic) | rs3750848 |
| ClinGen | rs3750848 |
| ebi | rs3750848 |
| HLI | rs3750848 |
| Exac | rs3750848 |
| Gnomad | rs3750848 |
| Varsome | rs3750848 |
| LitVar | rs3750848 |
| Map | rs3750848 |
| PheGenI | rs3750848 |
| Biobank | rs3750848 |
| 1000 genomes | rs3750848 |
| hgdp | rs3750848 |
| ensembl | rs3750848 |
| geneview | rs3750848 |
| scholar | rs3750848 |
| rs3750848 | |
| pharmgkb | rs3750848 |
| gwascentral | rs3750848 |
| openSNP | rs3750848 |
| 23andMe | rs3750848 |
| 23andMe all | rs3750848 |
| SNPshot | rs3750848 |
| SNPdbe | rs3750848 |
| MSV3d | rs3750848 |
| GWAS Ctlg | rs3750848 |
| GMAF | 0.2736 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
nature age related macular degeneration is associated with five highly correlated SNPs (rs10490924, rs3750848, rs3793917, rs11200638 and rs932275; r2 < 0.88) showed strongest association with AMD (2.72 < OR < 2.86)
[PMID 19933195] Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10q26
[PMID 21878851
] ASSOCIATION BETWEEN HIGH-RISK DISEASE LOCI AND RESPONSE TO ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR TREATMENT FOR WET AGE-RELATED MACULAR DEGENERATION
[PMID 16642439] Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.
[PMID 17884985] A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.
[PMID 20140183] Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.
[PMID 20157352] Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.
| GWAS snp | |
|---|---|
| PMID | [PMID 23577725]
|
| Trait | Age-related macular degeneration (extreme sampling) |
| Title | Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. |
| Risk Allele | C |
| P-val | 3E-29 |
| Odds Ratio | 3.12 [2.55-3.80] |
