rs4785763

A SNP in the AFG3L1 gene on chromosome 16. Its most notable genotype is A;A: 2x higher risk for melanoma

Gene
AFG3L1
Location
Chr 1690,000,528 (GRCh38)
Highest magnitude
1.5Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
28%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBad2x higher risk for melanomaMinor · 1.59% of people
  2. A;CBad1.5x higher risk for melanomaMinor · 1.542% of people
  3. C;CGoodcommonTypical · 0.049% of people

On SNPedia: (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.

  • AverageA;A 9% A;C 42% C;C 49%
  • European ancestry (Utah)A;A 10% A;C 56% C;C 35%
  • Han Chinese (Beijing)A;A 4% A;C 39% C;C 58%
  • Japanese (Tokyo)A;A 0% A;C 16% C;C 84%
  • Yoruba (Nigeria)A;A 10% A;C 46% C;C 44%
  • African ancestry (Southwest US)A;A 12% A;C 35% C;C 53%
  • Chinese (Denver)A;A 8% A;C 42% C;C 50%
  • Gujarati IndianA;A 12% A;C 35% C;C 53%
  • Luhya (Kenya)A;A 14% A;C 48% C;C 38%
  • Mexican ancestry (Los Angeles)A;A 7% A;C 49% C;C 44%
  • Maasai (Kenya)A;A 20% A;C 58% C;C 22%
  • TuscanA;A 7% A;C 35% C;C 58%

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs4785763 is a SNP near the MC1R gene, which encodes the melanocortin 1 receptor. rs4785763 was found to be associated with melanoma based on a study by the eMERGE network in which electronic medical records were searched to find clinical associations associated with selected SNPs. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. Genome-wide association study of tanning phenotype in a population of European ancestry.

Source and license

Adapted from rs4785763 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.