rs3819331

A SNP in the PTS gene on chromosome 11. Its most notable genotype is C;C: increased risk of autism

Gene
PTS
Location
Chr 11112,228,687 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
14%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableBadincreased risk of autismWorth knowing · 2.03% of people
  2. C;TBadincreased risk of autismWorth knowing · 2.023% of people
  3. T;TGoodlower risk of autismWorth knowing · 2.074% of people

On SNPedia: (C;C), (C;T), (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.

  • AverageC;C 3% C;T 23% T;T 74%
  • European ancestry (Utah)C;C 4% C;T 29% T;T 67%
  • Han Chinese (Beijing)C;C 7% C;T 31% T;T 61%
  • Japanese (Tokyo)C;C 4% C;T 30% T;T 66%
  • Yoruba (Nigeria)C;C 0% C;T 0% T;T 100%
  • African ancestry (Southwest US)C;C 0% C;T 9% T;T 91%
  • Chinese (Denver)C;C 6% C;T 43% T;T 51%
  • Gujarati IndianC;C 13% C;T 44% T;T 44%
  • Luhya (Kenya)C;C 0% C;T 2% T;T 98%
  • Mexican ancestry (Los Angeles)C;C 2% C;T 41% T;T 57%
  • Maasai (Kenya)C;C 0% C;T 3% T;T 97%
  • TuscanC;C 1% C;T 20% T;T 79%

Conditions, medicines and genes

Notes

From SNPedia

Notes

Examination of tetrahydrobiopterin pathway genes in autism. Examination of association to autism of common genetic variation in genes related to dopamine.

C;C

Increased risk of autism.ncbi.nlm.nih.gov

C;T

Increased risk of autism.ncbi.nlm.nih.gov

Source and license

Adapted from rs3819331 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.