rs547154

A SNP in the C2-AS1 gene on chromosome 6. Its most notable genotype is T;T: 0.47x decreased risk for AMD

Gene
C2-AS1
Location
Chr 631,943,161 (GRCh38)
Highest magnitude
2.1Worth knowing
Tested on
23andMe, FamilyTreeDNA
Minor allele frequency
10%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableGood0.47x decreased risk for AMDWorth knowing · 2.11% of people
  2. G;TGood0.47x decreased risk for AMDWorth knowing · 2.118% of people
  3. G;GNot ratednormalTypical · 0.081% of people

SNPedia records rs547154 on the minus strand: (A;A), (A;C), (C;C). 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 1% G;T 18% G;G 81%
  • European ancestry (Utah)T;T 0% G;T 12% G;G 88%
  • Han Chinese (Beijing)T;T 0% G;T 11% G;G 89%
  • Japanese (Tokyo)T;T 3% G;T 11% G;G 87%
  • Yoruba (Nigeria)T;T 2% G;T 22% G;G 76%
  • African ancestry (Southwest US)T;T 0% G;T 28% G;G 72%
  • Chinese (Denver)T;T <1% G;T 6% G;G 94%
  • Gujarati IndianT;T 2% G;T 31% G;G 67%
  • Luhya (Kenya)T;T 3% G;T 34% G;G 64%
  • Mexican ancestry (Los Angeles)T;T 0% G;T 14% G;G 86%
  • Maasai (Kenya)T;T <1% G;T 21% G;G 79%
  • TuscanT;T 1% G;T 13% G;G 86%

Other C2-AS1 SNPs

All C2-AS1 SNPs

Notes

From SNPedia

Notes

rs547154 significantly associated with Age-related maculopathy in both our case-control (P-value 0.00007) and family data (P-value 0.00001).

Source and license

Adapted from rs547154 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.