Evidence · Not yet replicated

What the research found

In the cited research, the A allele at rs619865 was associated with more freckling.

GG: Fewer freckles
AG: Middle
AA: More freckles

Modest effect

What the study found

In the study, each copy went with freckling score from reference pictures of the face, arms and shoulders, on a scale from zero (none) to sixteen about 0.77 points higher on average.

23andMe research participants of northern European ancestry · 4,405 people · Table 2 (Freckling, rs619865); sample size Table 1

Evidence: Genome-wide association, not yet replicated
Who was studied: 23andMe research participants of northern European ancestry

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	GGFewer freckles	AGMiddle	AAMore freckles
All regions2,504 people	95%	5%	<1%
Africa661 people	>99%	<1%	Not seen
The Americas347 people	95%	5%	Not seen
East Asia504 people	>99%	<1%	Not seen
Europe503 people	85%	15%	<1%
South Asia489 people	93%	7%	<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	1%1 of 71 copies read
First farmers6500 to 3000 BC	4%42 of 1,040 copies read
Bronze Age3000 to 1200 BC	6%59 of 967 copies read
Iron Age and Antiquity1200 BC to AD 600	8%93 of 1,200 copies read
Middle AgesAD 600 to 1500	7%41 of 589 copies read
Today1000 Genomes	7%75 of 1,006 copies

Neanderthal and Denisovan genomes

Altai Neanderthal: No copies
Vindija Neanderthal: No copies
Chagyrskaya Neanderthal: No copies
Denisovan: 1 copy

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.

rs619865

The marker

Gene or region: EIF6 (ASIP region, 20q11)
Marker: rs619865
Location: Chromosome 20 · GRCh37 33,867,697 · GRCh38 35,279,894
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: EIF6 (ASIP region, 20q11) · rs619865
Location: Chromosome 20 · GRCh37 33,867,697 · GRCh38 35,279,894
Studied allele: A
Published statistic: beta 0.771 per A allele on the zero to sixteen freckling score, score 13.26 (P about 5.5e-14), Bayes factor 10.78, n 4,405 (Eriksson 2010 Table 2); the same A allele goes with redder hair, beta 0.165 on the four point red-hair scale, score 9.89 (Table 3) (Table 2 (Freckling, rs619865); sample size Table 1)
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 2375 / 127 / 2 · Africa 658 / 3 / 0 · The Americas 329 / 18 / 0 · East Asia 503 / 1 / 0 · Europe 429 / 73 / 1 · South Asia 456 / 32 / 1

See this card in the sample report

Limits

What it cannot tell you

Found in one study and not yet confirmed in another.

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

The same topic

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