DNA Traits · Appearance
Eye pigmentation
How much pigment the iris holds, from brown through green to blue.
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Evidence · Replicated
What the research found
In the cited research, the G allele at rs12913832 was associated with lighter eye pigmentation.
- AA
- Darker range
- AG
- Middle
- GG
- Lighter range
Strong effect
What the study found
In the study, how many people had blue or grey eyes, by genotype:
- AANo copy
- 2 of 173 (1%)
- AGOne copy
- 74 of 1,063 (7%)
- GGTwo copies
- 1,394 of 1,932 (72%)
Australian (Queensland) twin families and relatives, mostly of northern European origin · 3,168 people · Table 4 (genotype rows summed over the OCA2 R419Q genotypes)A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color (Sturm et al., 2008)
- Evidence
- Replicated genome-wide association
- Who was studied
- Primarily European ancestry
1000 Genomes Project
How common each genotype is
| Region | AADarker range | AGMiddle | GGLighter range |
|---|---|---|---|
| All regions2,504 people | 75% | 15% | 10% |
| Africa661 people | 95% | 5% | <1% |
| The Americas347 people | 65% | 29% | 6% |
| East Asia504 people | >99% | <1% | Not seen |
| Europe503 people | 18% | 37% | 45% |
| South Asia489 people | 86% | 13% | <1% |
Among the 2,504 people of the 1000 Genomes Project, in five world regions. These percentages describe groups of people, never anyone’s chance of having a trait.
Ancient genomes
Through time
How often the studied letter was read in ancient people, era by era, in the region chosen.
Region
Europe
| Before farmingbefore 6500 BC | 41%28 of 68 copies read |
|---|---|
| First farmers6500 to 3000 BC | 39%369 of 956 copies read |
| Bronze Age3000 to 1200 BC | 36%330 of 915 copies read |
| Iron Age and Antiquity1200 BC to AD 600 | 45%506 of 1,123 copies read |
| Middle AgesAD 600 to 1500 | 47%284 of 609 copies read |
| Today1000 Genomes | 64%640 of 1,006 copies |
Neanderthal and Denisovan genomes
- Altai Neanderthal
- No copies
- Vindija Neanderthal
- No copies
- Chagyrskaya Neanderthal
- No copies
- Denisovan
- No copies
Neanderthals and Denisovans carried the other letter, so this letter is younger than our split with them.
rs12913832
The marker
- Gene or region
- HERC2 / OCA2
- Marker
- rs12913832
- Location
- Chromosome 15 · GRCh37 28,365,618 · GRCh38 28,120,472
- Letters studied
- A and G, with G as the studied allele
A DNA Traits report reads this marker in your raw DNA file and shows which of the three genotypes is yours, with how common it is. It counts the copies of the studied allele; it does not measure the trait itself.
- Marker
- HERC2 / OCA2 · rs12913832
- Location
- Chromosome 15 · GRCh37 28,365,618 · GRCh38 28,120,472
- Studied allele
- G
- Published statistic
- rs12913832 with eye colour P 2e-78 (Sturm 2008, Results). Replication: beta 2.491 per A allele (the other allele) on the 0 to 6 blue to dark brown picture scale, P below 1e-300, the SNP alone explaining 56.1% of the variance, 4,402 23andMe participants (Eriksson 2010, Table 4 and Results, Eye color) (Table 4 (genotype rows summed over the OCA2 R419Q genotypes))
- 1000 Genomes Project phase 3, people with 0, 1 and 2 copies
- All regions 1867 / 386 / 251 · Africa 626 / 33 / 2 · The Americas 227 / 100 / 20 · East Asia 502 / 2 / 0 · Europe 90 / 186 / 227 · South Asia 422 / 65 / 2
Limits
What it cannot tell you
A single marker cannot classify your eye color. Brown, hazel, green and blue involve multiple variants.
Web-based, participant-driven studies yield novel genetic associations for common traits (Eriksson et al., 2010)The same topic
More in Appearance
- Red hair association
- Blond hair association
- Hair shape
- Hair thickness association
- Skin pigmentation
- Freckling association
- Hair greying association
- Eyebrow thickness association
- Beard density association
- Unibrow association
- Nose bridge breadth association
- Nose wing breadth association
- Nose protrusion association
- Nose tip angle association
- Chin protrusion association
- Earlobe attachment association
- Earlobe size association
- Ear ridge folding association
- Male pattern hair loss
- Male pattern hair loss, HDAC9 marker
- Male pattern hair loss, EBF1 marker
- Male pattern hair loss, WNT10A marker
- Hair lightness, SLC24A4 marker
- Blond hair, TPCN2 marker
- Hair lightness, SLC45A2 marker
- Red hair, ASIP region marker
- Hair lightness, HERC2 marker
- Hair colour, IRF4 marker
- Hair shape, WNT10A marker
- Hair shape, PADI3 marker
- Hair shape, HOXC13 marker
- Hair shape, GATA3 region marker
- Hair shape, FRAS1 marker
- Hair shape, LCE3E marker
- Straight hair, EDAR marker
- Eyebrow thickness, FOXD1 region marker
- Eyebrow thickness, FOXL2 marker
- Shovel-shaped incisors
- Finger length ratio (SMOC1 marker)
- Finger length ratio (LDAH marker)
- Finger length ratio (SALL1 marker)
- Finger length ratio (OLA1 marker)
- Nose root position
- Nose wing breadth (PAX1 marker)
- Earlobe attachment (PAX9 marker)
- Earlobe attachment (KIAA1217 marker)
- Earlobe attachment (MRPS22 marker)
- Fingerprint whorls (ADAMTS9 marker)
- Fingerprint whorls (EVI1 marker)
- Fingerprint whorls (SALL3 marker)
- Green or hazel eyes
- Eye pigmentation (TYR)
- Freckling (TYR)
- Skin pigmentation (OCA2 H615R)
- Freckling (PPARGC1B)
- Freckling (HSPA12A)
- Freckling (BNC2)
- Freckling (EMX2)
- Freckling (EIF6, ASIP region)
- Skin lightness (OCA2 A481T)
- Eye pigmentation (TSPAN10)
- Eye pigmentation (TYRP1)
- Eye pigmentation (SLC24A4)
- Eye pigmentation (SIK1)
- Eye pigmentation (OCA2 exon ten)
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