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DNA Traits · Appearance

Eye pigmentation (TYRP1)

How much pigment the iris holds, from blue towards brown.

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Evidence · Replicated

What the research found

In the cited research, the G allele at rs13297008 was associated with darker eye pigmentation.

AA
Lighter range
AG
Middle
GG
Darker range
Modest effect

What the study found

In the study, each copy went with eye colour score from blue to dark brown on a seven step self-rated scale about 0.26 points higher on average.

23andMe research participants of European ancestry · 157,483 people · Table 1, region 28 (rs13297008: reference allele G, frequency 0.388, beta 0.260, SE 0.0077, P 4.99e-250)
Evidence
Genome-wide association at a previously reported locus
Who was studied
European ancestry (23andMe research participants; Icelandic and Dutch participants for the earlier report)
1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
RegionAALighter rangeAGMiddleGGDarker range
All regions2,504 people10%23%66%
Africa661 people<1%13%87%
The Americas347 people10%37%53%
East Asia504 peopleNot seen2%98%
Europe503 people38%44%18%
South Asia489 people5%29%65%

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.

rs13297008

The marker

Gene or region
TYRP1
Marker
rs13297008
Location
Chromosome 9 · GRCh37 12,677,471 · GRCh38 12,677,471
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
TYRP1 · rs13297008
Location
Chromosome 9 · GRCh37 12,677,471 · GRCh38 12,677,471
Studied allele
G
Published statistic
beta 0.260 (SE 0.0077) per G allele on the zero to six eye colour scale, P 4.99e-250, n 157,483 (Simcoe 2021 Table 1, region 28, where TYRP1 is marked as a locus previously associated with other pigmentation traits); the TYRP1 eye-colour signal was reported earlier at rs1408799, which has r2 0.68 with this marker in 1000 Genomes Europeans (Table 1, region 28 (rs13297008: reference allele G, frequency 0.388, beta 0.260, SE 0.0077, P 4.99e-250))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies
All regions 256 / 586 / 1662 · Africa 3 / 84 / 574 · The Americas 36 / 128 / 183 · East Asia 0 / 8 / 496 · Europe 192 / 222 / 89 · South Asia 25 / 144 / 320
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Limits

What it cannot tell you

Inherited together with the TYRP1 marker on the tanning card, so the two are not independent evidence.

Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color (Simcoe et al., 2021)
The same topic

More in Appearance

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