DNA Traits · Appearance

Skin lightness (OCA2 A481T)

How light or dark the skin is, through a variant found mainly in north-east Asia.

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Evidence · Replicated

What the research found

In the cited research, the T allele at rs74653330 was associated with lighter skin.

CC: Darker range
CT: Middle
TT: Lighter range

Clear effect

What the study found

In the study, each copy went with skin lightness measured from photographs of the cheeks, on the lightness scale where higher means lighter about 1.25 points higher on average.

East Asian participants of the discovery set, mostly Korean women · 48,433 people · Supplementary Data 4, rs74653330 row, the lightness columns under GWAS without the inverse normal transformation; the discovery N 48,433 is printed in Supplementary Data 2 and in the Results

Evidence: Genome-wide association with independent replication
Who was studied: East Asian ancestry (mostly Korean women; Japanese women)

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	CCDarker range	CTMiddle	TTLighter range
All regions2,504 people	98%	2%	<1%
Africa661 people	All	Not seen	Not seen
The Americas347 people	>99%	<1%	Not seen
East Asia504 people	95%	5%	<1%
Europe503 people	98%	2%	Not seen
South Asia489 people	All	Not seen	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.

rs74653330

The marker

Gene or region: OCA2 (A481T)
Marker: rs74653330
Location: Chromosome 15 · GRCh37 28,228,553 · GRCh38 27,983,407
Letters studied: C and T, with T 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 (A481T) · rs74653330
Location: Chromosome 15 · GRCh37 28,228,553 · GRCh38 27,983,407
Studied allele: T
Published statistic: beta 1.2515 lightness points per T allele (SE 0.0578), P 6.44e-104, n 48,433, from the analysis without the inverse normal transformation (Supplementary Data 4); on the inverse-normal transformed residuals the paper's Table 1 prints beta 0.345 (SE 0.014), P 2.37e-137, with redness -0.127 and yellowness -0.375, and Supplementary Data 4 gives the replication estimate 0.297 (SE 0.040), P 6.38e-14, in 4,992 externally independent people (Supplementary Data 6); Seo 2022 in Korean women: facial lightness beta 1.09 per T, P 2e-48; Inoue 2021 in Japanese women: sunburn type beta -0.344 per T, P 1e-12 (both as curated in the GWAS Catalog, neither paper open access) (Supplementary Data 4, rs74653330 row, the lightness columns under GWAS without the inverse normal transformation; the discovery N 48,433 is printed in Supplementary Data 2 and in the Results)
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 2465 / 38 / 1 · Africa 661 / 0 / 0 · The Americas 344 / 3 / 0 · East Asia 478 / 25 / 1 · Europe 493 / 10 / 0 · South Asia 489 / 0 / 0

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Limits

What it cannot tell you

Found mainly in north-east Asia; elsewhere almost no one carries the studied letter, and two copies are very rare.

Mapping and annotating genomic loci to prioritize genes and implicate distinct polygenic adaptations for skin color (Kim et al., 2024)

The same topic

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