rs3810950
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs3810950(A;A) |
| Make rs3810950(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 49616573 |
| Gene | CHAT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3810950 |
| dbSNP (classic) | rs3810950 |
| ClinGen | rs3810950 |
| ebi | rs3810950 |
| HLI | rs3810950 |
| Exac | rs3810950 |
| Gnomad | rs3810950 |
| Varsome | rs3810950 |
| LitVar | rs3810950 |
| Map | rs3810950 |
| PheGenI | rs3810950 |
| Biobank | rs3810950 |
| 1000 genomes | rs3810950 |
| hgdp | rs3810950 |
| ensembl | rs3810950 |
| geneview | rs3810950 |
| scholar | rs3810950 |
| rs3810950 | |
| pharmgkb | rs3810950 |
| gwascentral | rs3810950 |
| openSNP | rs3810950 |
| 23andMe | rs3810950 |
| SNPshot | rs3810950 |
| SNPdbe | rs3810950 |
| MSV3d | rs3810950 |
| GWAS Ctlg | rs3810950 |
| GMAF | 0.1515 |
| Max Magnitude | 0 |
[PMID 27272392
] A meta-analysis of 16,000 Alzheimer's cases finds that rs3810950 is associated (albeit not with a high odds ratio) with the disease in Asians.
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 21507424] Genetic variation in the choline O-acetyltransferase gene in depression and Alzheimer's disease: the VITA and Milano studies
[PMID 21883924] Genetic variants in the choline acetyltransferase (ChAT) gene are modestly associated with normal cognitive function in the elderly.
[PMID 15690550] Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study.
[PMID 16223550] Genetic variation in the choline acetyltransferase (CHAT) gene may be associated with the risk of Alzheimer's disease.
[PMID 16480703] ApoE-epsilon 4-dependent association of the choline acetyltransferase gene polymorphisms (2384G>A and 1882G>A) with Alzheimer's disease.
[PMID 17503482] Choline acetyltransferase variants and their influence in schizophrenia and olanzapine response.
[PMID 18072279] Combining fMRI and SNP data to investigate connections between brain function and genetics using parallel ICA.
[PMID 20383528] Replication and extension of association of choline acetyltransferase with nicotine dependence in European and African American smokers.
| ClinVar | |
|---|---|
| Risk | rs3810950(A;A) |
| Alt | rs3810950(A;A) |
| Reference | Rs3810950(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | CHAT |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000010.10:g.50824619G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000116697.4, |
