rs12913832

A SNP in the HERC2 gene on chromosome 15. Its most notable genotype is G;G: blue eye color, 99% of the time

Gene
HERC2
Location
Chr 1528,120,472 (GRCh38)
Highest magnitude
2.5Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
29%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;ANot ratedbrown eye color, 80% of the timeTypical · 0.076% of people
  2. A;GNot ratedbrown eye colorTypical · 0.015% of people
  3. G;GMost notableNot ratedblue eye color, 99% of the timeWorth knowing · 2.59% of people

On SNPedia: (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 10 HapMap populations.

  • AverageA;A 76% A;G 15% G;G 9%
  • European ancestry (Utah)A;A 4% A;G 35% G;G 62%
  • Han Chinese (Beijing)A;A 100% A;G 0% G;G 0%
  • Japanese (Tokyo)A;A 100% A;G 0% G;G 0%
  • Yoruba (Nigeria)A;A 100% A;G 0% G;G 0%
  • African ancestry (Southwest US)A;A 72% A;G 25% G;G 4%
  • Chinese (Denver)A;A 99% A;G <1% G;G 0%
  • Gujarati IndianA;A 83% A;G 17% G;G 0%
  • Mexican ancestry (Los Angeles)A;A 69% A;G 21% G;G 10%
  • Maasai (Kenya)A;A 99% A;G <1% G;G 0%
  • TuscanA;A 32% A;G 53% G;G 15%

Conditions, medicines and genes

Other HERC2 SNPs

All HERC2 SNPs

Genosets

Genosets combine several genotypes. Twofold checks them in your report.

Notes

From SNPedia

Show notes, about 220 words

rs12913832 is a SNP near the OCA2 gene that may be functionally linked to blue or brown eye color, due to a lowering of promoter activity of the OCA2 gene. Blue eye color is associated with the rs12913832(G;G) genotype.PMID 18172690, PMID 18252222 For green versus blue eye color rs12913832 in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of (4.85&#8211;10.06). rs12913832 is also part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, that is found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other racial groups. rs12913832-T (brown eye) homozygotes compared to rs12913832-C (blue eye). correlations with skin, eye, and hair color variation. The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows : rs4778241(C) rs1129038(A) rs12593929(A) rs12913832(G) rs7183877(C) rs3935591(G) rs7170852(A) rs2238289(T) rs3940272(C) rs8028689(T) rs2240203(A) rs11631797(G) rs916977(G) blog coverage A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

A;A

observed in User:Watson and User:Dichro

Source and license

Adapted from rs12913832 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.