rs1047552

A SNP in the APH1B gene on chromosome 15. Its most notable genotype is G;G: 1.6x higher atherosclerosis risk only in males

Gene
APH1B
Location
Chr 1563,305,658 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, FamilyTreeDNA
Minor allele frequency
10%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GMost notableNot rated1.6x higher atherosclerosis risk only in malesTypical · 0.02% of people
  2. G;TNot rated1.6x higher atherosclerosis risk only in malesTypical · 0.017% of people
  3. T;TGoodnormalTypical · 0.081% of people

On SNPedia: (G;G), (G;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.

  • AverageG;G 2% G;T 17% T;T 81%
  • European ancestry (Utah)G;G 0% G;T 4% T;T 96%
  • Han Chinese (Beijing)G;G 4% G;T 27% T;T 69%
  • Japanese (Tokyo)G;G 4% G;T 41% T;T 55%
  • Yoruba (Nigeria)G;G 0% G;T 11% T;T 89%
  • African ancestry (Southwest US)G;G 2% G;T 11% T;T 88%
  • Chinese (Denver)G;G 0% G;T 25% T;T 75%
  • Gujarati IndianG;G 0% G;T 10% T;T 90%
  • Luhya (Kenya)G;G 0% G;T 17% T;T 83%
  • Mexican ancestry (Los Angeles)G;G 5% G;T 14% T;T 81%
  • Maasai (Kenya)G;G <1% G;T 21% T;T 79%
  • TuscanG;G 1% G;T 7% T;T 92%

Conditions, medicines and genes

Notes

From SNPedia

Notes

This SNP is in the anterior pharynx defective 1 homolog B APH1B gene; the (T) allele encodes the Phe, while the (G) allele encodes the rarer Leu; this SNP is also known as Phe217Leu. rs1047552 previously linked to Alzheimer's disease. Analysis of a Dutch Caucasian cohort (780 cases; 1414 controls) showed a higher prevalence of the risk allele rs1047552(G) in males (OR = 1.63; p = 0.033) for coronary atherosclerosis but not females.

Source and license

Adapted from rs1047552 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.