rs2736911
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2736911(C;T) |
| Make rs2736911(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 122454839 |
| Gene | ARMS2, LOC105378525 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2736911 |
| dbSNP (classic) | rs2736911 |
| ClinGen | rs2736911 |
| ebi | rs2736911 |
| HLI | rs2736911 |
| Exac | rs2736911 |
| Gnomad | rs2736911 |
| Varsome | rs2736911 |
| LitVar | rs2736911 |
| Map | rs2736911 |
| PheGenI | rs2736911 |
| Biobank | rs2736911 |
| 1000 genomes | rs2736911 |
| hgdp | rs2736911 |
| ensembl | rs2736911 |
| geneview | rs2736911 |
| scholar | rs2736911 |
| rs2736911 | |
| pharmgkb | rs2736911 |
| gwascentral | rs2736911 |
| openSNP | rs2736911 |
| 23andMe | rs2736911 |
| SNPshot | rs2736911 |
| SNPdbe | rs2736911 |
| MSV3d | rs2736911 |
| GWAS Ctlg | rs2736911 |
| GMAF | 0.1295 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 24013816
] Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis
[PMID 16080115] Susceptibility genes for age-related maculopathy on chromosome 10q26.
[PMID 16642439] Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.
[PMID 17903299] A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.
[PMID 18162041] Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking.
[PMID 18688167] Polymorphisms in the LOC387715/ARMS2 putative gene and the risk for Alzheimer's disease.
[PMID 19259132] Multilocus analysis of age-related macular degeneration.
[PMID 19958499] A particle swarm based hybrid system for imbalanced medical data sampling.
[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.
[PMID 20664794] Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina.
[PMID 21203342] Elevated C-reactive protein levels and ARMS2/HTRA1 gene variants in subjects without age-related macular degeneration.
[PMID 21252205] Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.
[PMID 22293892] A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related macular degeneration in Poland - a brief report.
[PMID 23289807] Gene-gene interactions of CFH and LOC387715/ARMS2 with Korean exudative age-related macular degeneration patients.
[PMID 25074467] Phenome-wide association studies (PheWASs) for functional variants
| ClinVar | |
|---|---|
| Risk | rs2736911(A;A) rs2736911(T;T) |
| Alt | rs2736911(A;A) rs2736911(T;T) |
| Reference | Rs2736911(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Macular degeneration |
| Variation | info |
| Gene | ARMS2 |
| CLNDBN | Macular degeneration |
| Reversed | 0 |
| HGVS | NC_000010.10:g.124214355C>T |
| CLNSRC | |
| CLNACC | RCV000316955.1, |
