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rs3810950

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3810950(A;A)
Make rs3810950(A;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position49616573
GeneCHAT
is asnp
is mentioned by
dbSNPrs3810950
ebirs3810950
HLIrs3810950
Exacrs3810950
Varsomers3810950
Maprs3810950
PheGenIrs3810950
hapmaprs3810950
1000 genomesrs3810950
hgdprs3810950
ensemblrs3810950
gopubmedrs3810950
geneviewrs3810950
scholarrs3810950
googlers3810950
pharmgkbrs3810950
gwascentralrs3810950
openSNPrs3810950
23andMers3810950
23andMe allrs3810950
SNP Nexus

SNPshotrs3810950
SNPdbers3810950
MSV3drs3810950
GWAS Ctlgrs3810950
GMAF0.1515
Max Magnitude0

[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 21883924OA-icon.png] 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 16223550OA-icon.png] 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 18072279OA-icon.png] 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.


GET Evidence
CHAT-A120T
aa_change Ala120Thr
aa_change_short A120T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.184328
summary



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 ClinVar
CLNACC RCV000116697.1,