rs2760118

A SNP in the ALDH5A1 gene on chromosome 6. Its most notable genotype is C;C: common in clinvar

Gene
ALDH5A1
Location
Chr 624,503,362 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
31%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;CMost notableGoodcommon in clinvarTypical · 0.048% of people

SNPedia records rs2760118 on the minus strand: (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.

  • AverageC;C 48%
  • European ancestry (Utah)C;C 41%
  • Han Chinese (Beijing)C;C 73%
  • Japanese (Tokyo)C;C 62%
  • Yoruba (Nigeria)C;C 30%
  • African ancestry (Southwest US)C;C 35%
  • Chinese (Denver)C;C 69%
  • Gujarati IndianC;C 51%
  • Luhya (Kenya)C;C 26%
  • Mexican ancestry (Los Angeles)C;C 64%
  • Maasai (Kenya)C;C 23%
  • TuscanC;C 56%

Other ALDH5A1 SNPs

All ALDH5A1 SNPs

Notes

From SNPedia

Notes

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Reduced SSADH activity with T variant (83% of normal). A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.

Source and license

Adapted from rs2760118 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.