rs17571

A SNP in the CTSD gene on chromosome 11. Its most notable genotype is A;A: Increase in risk of vCJD. But rare.

Gene
CTSD
Location
Chr 111,761,364 (GRCh38)
Highest magnitude
2.1Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
5%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodNormal risk of vCJDTypical · 0.089% of people
  2. A;AMost notableNot ratedIncrease in risk of vCJD. But rare.Worth knowing · 2.1<1% of people

SNPedia records rs17571 on the minus strand: (C;C), (T;T). 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 89% A;A <1%
  • European ancestry (Utah)G;G 82% A;A 0%
  • Han Chinese (Beijing)G;G 88% A;A 0%
  • Japanese (Tokyo)G;G 99% A;A 0%
  • Yoruba (Nigeria)G;G 96% A;A 0%
  • African ancestry (Southwest US)G;G 93% A;A 0%
  • Chinese (Denver)G;G 95% A;A 0%
  • Gujarati IndianG;G 84% A;A 1%
  • Luhya (Kenya)G;G 92% A;A <1%
  • Mexican ancestry (Los Angeles)G;G 93% A;A 0%
  • Maasai (Kenya)G;G 71% A;A 3%
  • TuscanG;G 86% A;A 1%

Notes

From SNPedia

Show notes, about 200 words

7thspace.com 110 Variant Creutzfeldt-Jakob disease (vCJD) patients were tested for the C-T base change. significant excess of the cathepsin D polymorphism TT genotype in the vCJD cohort compared to controls. The TT genotype was found to have a 9.75 fold increase in risk of vCJD compared to the CT genotype and a 10.92 fold increase compared to the CC genotype. The disease was known as "mad cow" when an outbreak occurred in Britain in the 1990s. The cathepsin D rs17571 polymorphism: effects on CSF tau concentrations in Alzheimer disease. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. Short arm of chromosome 11 and sporadic Alzheimer's disease: catalase and cathepsin D gene polymorphisms. Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease. Assessment of Alzheimer's disease case-control associations using family-based methods. Cathepsin D gene and the risk of Alzheimer's disease: a population-based study and meta-analysis.

Source and license

Adapted from rs17571 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.