rs3810950

A SNP in the CHAT gene on chromosome 10. Its most notable genotype is G;G: common in clinvar

Gene
CHAT
Location
Chr 1049,616,573 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
15%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GMost notableGoodcommon in clinvarTypical · 0.074% of people

On SNPedia: (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageG;G 74%
  • European ancestry (Utah)G;G 60%
  • Han Chinese (Beijing)G;G 74%
  • Japanese (Tokyo)G;G 57%
  • Yoruba (Nigeria)G;G 100%
  • African ancestry (Southwest US)G;G 97%
  • Chinese (Denver)G;G 71%
  • Gujarati IndianG;G 46%
  • Luhya (Kenya)G;G 98%
  • Mexican ancestry (Los Angeles)G;G 64%
  • Maasai (Kenya)G;G 93%
  • TuscanG;G 50%

Other CHAT SNPs

All CHAT SNPs

Notes

From SNPedia

Show notes, about 160 words

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. Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study. Genetic variation in the choline acetyltransferase (CHAT) gene may be associated with the risk of Alzheimer's disease. ApoE-epsilon 4-dependent association of the choline acetyltransferase gene polymorphisms (2384G>A and 1882G>A) with Alzheimer's disease. Choline acetyltransferase variants and their influence in schizophrenia and olanzapine response. Combining fMRI and SNP data to investigate connections between brain function and genetics using parallel ICA. Replication and extension of association of choline acetyltransferase with nicotine dependence in European and African American smokers.

Source and license

Adapted from rs3810950 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.