Evidence · Replicated

What the research found

In the cited research, the A allele at rs1393350 was associated with lighter eye pigmentation.

GG: Darker range
AG: Middle
AA: Lighter range

Modest effect

What the study found

In the study, each copy went with eye colour score from blue to brown on a seven step survey scale about 0.28 points lower on average.

23andMe research participants of northern European ancestry · 4,402 people · Table 4 (Eye color, rs1393350); sample size Table 1

Evidence: Genome-wide association with independent replication
Who was studied: European ancestry (Icelandic, Dutch and 23andMe participants)

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	GGDarker range	AGMiddle	AALighter range
All regions2,504 people	85%	13%	1%
Africa661 people	99%	1%	<1%
The Americas347 people	77%	22%	1%
East Asia504 people	>99%	<1%	Not seen
Europe503 people	56%	40%	5%
South Asia489 people	89%	10%	<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

Through time: Europe
Before farmingbefore 6500 BC	2%1 of 64 copies read
First farmers6500 to 3000 BC	8%76 of 977 copies read
Bronze Age3000 to 1200 BC	13%121 of 898 copies read
Iron Age and Antiquity1200 BC to AD 600	19%215 of 1,114 copies read
Middle AgesAD 600 to 1500	15%92 of 626 copies read
Today1000 Genomes	24%245 of 1,006 copies

Neanderthal and Denisovan genomes

Altai Neanderthal: No copies
Vindija Neanderthal: Not read
Chagyrskaya Neanderthal: Not read
Denisovan: No copies

Neanderthals and Denisovans carried the other letter, so this letter is younger than our split with them.

For most ancient people only one of their two copies can be read, so these counts are copies read, not people. Close relatives, repeated samples and samples the archive marks as unreliable are left out. Damage in old DNA can fake this letter, so it is counted only from samples treated to remove that damage and from high-quality genomes. Ancient genomes from the Allen Ancient DNA Resource (AADR v66): 15,136 people.

rs1393350

The marker

Gene or region: TYR
Marker: rs1393350
Location: Chromosome 11 · GRCh37 89,011,046 · GRCh38 89,277,878
Letters studied: A and G, with A 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: TYR · rs1393350
Location: Chromosome 11 · GRCh37 89,011,046 · GRCh38 89,277,878
Studied allele: A
Published statistic: beta -0.278 per A allele on the zero to six blue to brown scale, score 8.49 (P about 3e-9), n 4,402 (Eriksson 2010 Table 4, a replication of a known eye colour locus); Sulem 2007: OR 1.52 per A for blue versus green eyes, P 3e-12, A frequency 0.23, and OR 1.26 per A for skin sensitivity to sun, P 2e-6 (as curated in the GWAS Catalog, GCST000117 and GCST000116; the paper is not open access and its tables were not read) (Table 4 (Eye color, rs1393350); sample size Table 1)
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 2137 / 337 / 30 · Africa 652 / 7 / 2 · The Americas 266 / 77 / 4 · East Asia 501 / 3 / 0 · Europe 281 / 199 / 23 · South Asia 437 / 51 / 1

See this card in the sample report

Limits

What it cannot tell you

This marker is almost always inherited together with the TYR marker on the sunburn history card, so the two cards are not independent evidence.

Web-based, participant-driven studies yield novel genetic associations for common traits (Eriksson et al., 2010)

The same topic

More in Appearance

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