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DNA Traits · Appearance

Skin pigmentation

How light or dark the skin is.

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Evidence · Replicated

What the research found

In the cited research, the A allele at rs1426654 was associated with lighter skin pigmentation.

GG
Darker range
AG
Middle
AA
Lighter range
Strong effect

What the study found

In the study, the average on the skin melanin index, where higher means darker skin (estimated values for men), by genotype:

GGNo copy
49.6 points
AGOne copy
44.7 points
AATwo copies
42 points
Men from three agricultural castes of Andhra Pradesh, South India (Cohort A) · 912 people · Supplementary Table S3A (estimated means from multiple imputation)
Evidence
Functional variant and replicated association
Who was studied
South Asian and other studied populations
1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
RegionGGDarker rangeAGMiddleAALighter range
All regions2,504 people48%16%36%
Africa661 people86%13%<1%
The Americas347 people22%38%40%
East Asia504 people98%2%Not seen
Europe503 peopleNot seen<1%>99%
South Asia489 people14%36%51%

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 BC30%13 of 44 copies read
First farmers6500 to 3000 BC93%707 of 764 copies read
Bronze Age3000 to 1200 BC99%603 of 612 copies read
Iron Age and Antiquity1200 BC to AD 60099%852 of 861 copies read
Middle AgesAD 600 to 150088%420 of 475 copies read
Today1000 Genomesover 99%1,003 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.
rs1426654

The marker

Gene or region
SLC24A5
Marker
rs1426654
Location
Chromosome 15 · GRCh37 48,426,484 · GRCh38 48,134,287
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
SLC24A5 · rs1426654
Location
Chromosome 15 · GRCh37 48,426,484 · GRCh38 48,134,287
Studied allele
A
Published statistic
OR 26.2 for the A allele (95% CI 12 to 67.5) for the lighter (melanin index below 38) versus darker (above 50) extreme groups, adjusted for sex and caste, P 2.4e-31; r² 27% (95% CI 22 to 32) by the SNP alone (Results); estimated mean melanin index GG minus AA 7.48 units (95% CI 6.65 to 8.30), n 1,228 (Supplementary Table S3B); Cohort B replication P 3.24e-8 (Results) (Supplementary Table S3A (estimated means from multiple imputation))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies
All regions 1204 / 408 / 892 · Africa 568 / 88 / 5 · The Americas 77 / 131 / 139 · East Asia 492 / 12 / 0 · Europe 0 / 3 / 500 · South Asia 67 / 174 / 248
See this card in the sample report
Limits

What it cannot tell you

This variant is not a skin-tone scale and gives no sun-exposure or skin-health advice.

The light skin allele of SLC24A5 in South Asians and Europeans shares identity by descent (Basu Mallick et al., 2013)
The same topic

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