rs1800407

A SNP in the OCA2 gene on chromosome 15. Its most notable genotype is T;T: green/hazel/brown/black eyes more likely

Gene
OCA2
Location
Chr 1527,985,172 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
3%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableNot ratedgreen/hazel/brown/black eyes more likelyMinor · 1.0<1% of people
  2. C;TNot ratedgreen/hazel/brown/black eyes more likelyMinor · 1.05% of people
  3. C;CNot ratedblue/gray eyes more possibleMinor · 1.094% of people

SNPedia records rs1800407 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 8 HapMap populations.

  • AverageT;T <1% C;T 5% C;C 94%
  • European ancestry (Utah)T;T <1% C;T 13% C;C 86%
  • Han Chinese (Beijing)T;T 0% C;T 2% C;C 98%
  • Japanese (Tokyo)T;T 0% C;T <1% C;C 99%
  • Chinese (Denver)T;T 0% C;T <1% C;C 99%
  • Gujarati IndianT;T 0% C;T 2% C;C 98%
  • Luhya (Kenya)T;T 0% C;T 2% C;C 98%
  • Mexican ancestry (Los Angeles)T;T 0% C;T 7% C;C 93%
  • TuscanT;T 2% C;T 16% C;C 82%

Conditions, medicines and genes

Other OCA2 SNPs

All OCA2 SNPs

Notes

From SNPedia

Show notes, about 170 words

rs1800407 is located in exon 13 of the OCA2 gene at amino acid position 419, and it is therefore also known as the R419Q variant. The (A) allele encodes the amino acid glutamine (instead of arginine), and it is associated with increased odds of having green/hazel eye color in some Caucasian populations. One copy of of rs1800407(A) is sufficient for this effect. PMID 12163334, PMID 15889046; OMIM 203200.0012] According to tree scanning analysis, the proportion of eye colour variation explained by this nucleotide position is merely 4%. Thus, additional variation present in the OCA2 gene and perhaps some other pigment related genes must be taken into account in order to explain the high phenotypic variation in iris colour. Among rs12913832(A;A) individuals, the penetrance for green/hazel eyes was 50%, 21%, and 6%, respectively, for rs1800407(A;A), (A;G), and (G;G) genotypes, respectively. R419Q is also a significant risk factor (odd ratio 1.27, p=0.0006) for cutaneous malignant melanoma.

Source and license

Adapted from rs1800407 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.