rs9332739

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

Gene
C2-AS1
Location
Chr 631,936,027 (GRCh38)
Highest magnitude
2.1Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
3%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableGood0.47x decreased risk for AMDWorth knowing · 2.1<1% of people
  2. C;GGood0.47x decreased risk for AMDWorth knowing · 2.17% of people
  3. G;GGoodnormalTypical · 0.092% of people

On SNPedia: (C;C), (C;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 4 HapMap populations.

  • AverageC;C <1% C;G 7% G;G 92%
  • European ancestry (Utah)C;C 2% C;G 9% G;G 89%
  • Han Chinese (Beijing)C;C 0% C;G 11% G;G 89%
  • Japanese (Tokyo)C;C 0% C;G 5% G;G 96%
  • Yoruba (Nigeria)C;C 0% C;G 5% G;G 95%

Conditions, medicines and genes

Other C2-AS1 SNPs

All C2-AS1 SNPs

Notes

From SNPedia

Show notes, about 170 words

age related macular degeneration Genetic markers and biomarkers for age-related macular degeneration. C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes. Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD). Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study. Multilocus analysis of age-related macular degeneration. Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes. Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort. Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors. Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.

Source and license

Adapted from rs9332739 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.