rs1042503

A SNP in the PAH gene on chromosome 12. Its most notable genotype is C;T: Benign polymorphism

Gene
PAH
Location
Chr 12102,852,922 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TGoodBenign polymorphismTypical · 0.020% of people
  2. C;TMost notableGoodBenign polymorphismMinor · 1.027% of people
  3. C;CGoodcommon in clinvarTypical · 0.053% of people

SNPedia records rs1042503 on the minus strand: (A;A), (A;G), (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.

  • AverageT;T 20% C;T 27% C;C 53%
  • European ancestry (Utah)T;T 7% C;T 39% C;C 54%
  • Han Chinese (Beijing)T;T 63% C;T 29% C;C 8%
  • Japanese (Tokyo)T;T 65% C;T 33% C;C 3%
  • Yoruba (Nigeria)T;T 0% C;T 0% C;C 100%
  • African ancestry (Southwest US)T;T 0% C;T 16% C;C 84%
  • Chinese (Denver)T;T 62% C;T 30% C;C 7%
  • Gujarati IndianT;T 13% C;T 53% C;C 35%
  • Luhya (Kenya)T;T 0% C;T 4% C;C 96%
  • Mexican ancestry (Los Angeles)T;T 2% C;T 41% C;C 57%
  • Maasai (Kenya)T;T <1% C;T 17% C;C 83%
  • TuscanT;T 7% C;T 34% C;C 59%

Other PAH SNPs

All PAH SNPs

Source and license

Adapted from rs1042503 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.