Evidence · Replicated

What the research found

In the cited research, the C allele at rs1800414 was associated with lighter skin pigmentation.

TT: Darker range
CT: Middle
CC: Lighter range

Modest effect

What the study found

In the study, each copy went with skin melanin index measured on the inner upper arm in winter, where higher means darker skin about 0.86 points lower on average.

Han Chinese recruited in China · 207 people · Results, the paragraph after Table 4 (the per-copy estimate and its P value); Table 4 prints the sample's genotype counts and the same regression coefficient

Evidence: Candidate-gene association with an independent replication sample, and genome-wide significant in two later East Asian studies
Who was studied: East Asian ancestry (Canadian East Asians, Han Chinese, and later Chinese and Asian women's cohorts)

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	TTDarker range	CTMiddle	CCLighter range
All regions2,504 people	83%	10%	7%
Africa661 people	>99%	<1%	Not seen
The Americas347 people	All	Not seen	Not seen
East Asia504 people	15%	51%	34%
Europe503 people	All	Not seen	Not seen
South Asia489 people	>99%	<1%	Not seen

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	0%0 of 58 copies read
First farmers6500 to 3000 BC	0%0 of 913 copies read
Bronze Age3000 to 1200 BC	under 1%1 of 830 copies read
Iron Age and Antiquity1200 BC to AD 600	0%0 of 1,078 copies read
Middle AgesAD 600 to 1500	under 1%3 of 603 copies read
Today1000 Genomes	0%0 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.

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.

rs1800414

The marker

Gene or region: OCA2 (H615R)
Marker: rs1800414
Location: Chromosome 15 · GRCh37 28,197,037 · GRCh38 27,951,891
Letters studied: C and T, with C 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: OCA2 (H615R) · rs1800414
Location: Chromosome 15 · GRCh37 28,197,037 · GRCh38 27,951,891
Studied allele: C
Published statistic: beta -0.855 melanin index units per Arg615 allele (forward C), P 0.005, around four per cent of variance, n 207 Han Chinese (Table 4 and Results); discovery beta -1.256, P 0.002, around nine per cent of variance, n 122 Canadian East Asians (Table 3 and Results), where the unconstrained model gave -1.6 units for one copy (P 0.046) and -2.6 units for two copies (P 0.002); genome-wide: forward C beta 0.09 lower skin pigmentation, P 1e-10 (Wang 2021, PMID 34570997) and P 1e-12 for forehead skin colour, P 2e-12 for skin brightness in women from four Asian countries (Moon 2025, PMID 40010489), both as curated in the GWAS Catalog (Results, the paragraph after Table 4 (the per-copy estimate and its P value); Table 4 prints the sample's genotype counts and the same regression coefficient)
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 2070 / 262 / 172 · Africa 660 / 1 / 0 · The Americas 347 / 0 / 0 · East Asia 75 / 257 / 172 · Europe 503 / 0 / 0 · South Asia 485 / 4 / 0

See this card in the sample report

Limits

What it cannot tell you

Common only in East Asian ancestry; elsewhere nearly everyone has no copies, and the marker then says nothing about skin colour.

Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation (Edwards et al., 2010)

The same topic

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