DNA Traits · Appearance
Freckling (TYR)
Small tan spots on the skin that the sun brings out.
Free, once per account. Your own private report.
Evidence · Replicated
What the research found
In the cited research, the A allele at rs1042602 was associated with fewer freckles.
- CC
- More freckles
- AC
- Middle
- AA
- Fewer freckles
Slight 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 0.36 points lower on average.
23andMe research participants of northern European ancestry · 4,405 people · Table 5 (suggestive associations, Freckle, rs1042602); sample size Table 1
- Evidence
- Genome-wide association with independent replication
- Who was studied
- European ancestry (Icelandic and Dutch participants; 23andMe research participants of northern European ancestry)
1000 Genomes Project
How common each genotype is
| Region | CCMore freckles | ACMiddle | AAFewer freckles |
|---|---|---|---|
| All regions2,504 people | 80% | 16% | 4% |
| Africa661 people | 98% | 2% | Not seen |
| The Americas347 people | 60% | 33% | 7% |
| East Asia504 people | >99% | <1% | Not seen |
| Europe503 people | 42% | 42% | 16% |
| South Asia489 people | 88% | 12% | <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
Europe
| Before farmingbefore 6500 BC | 1%1 of 117 copies read |
|---|---|
| First farmers6500 to 3000 BC | 12%136 of 1,170 copies read |
| Bronze Age3000 to 1200 BC | 22%255 of 1,175 copies read |
| Iron Age and Antiquity1200 BC to AD 600 | 35%631 of 1,794 copies read |
| Middle AgesAD 600 to 1500 | 34%539 of 1,568 copies read |
| Today1000 Genomes | 37%374 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.
rs1042602
The marker
- Gene or region
- TYR (S192Y)
- Marker
- rs1042602
- Location
- Chromosome 11 · GRCh37 88,911,696 · GRCh38 89,178,528
- Letters studied
- A and C, 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 (S192Y) · rs1042602
- Location
- Chromosome 11 · GRCh37 88,911,696 · GRCh38 89,178,528
- Studied allele
- A
- Published statistic
- beta -0.356 per A allele, score 7.25 (P about 5.6e-8), n 4,405, shown in Eriksson 2010 Table 5 as a replication of a known freckling association; Sulem 2007: OR 1.32 per C (the other allele) for freckles, P 2e-11, C frequency 0.67 (as curated in the GWAS Catalog GCST000119; tables not read); the same A allele lightens skin, beta 0.086 per A, P 4.4e-8 in the Spanish GCAT cohort (Farre 2023 Supplementary Table S6, Skin colour block) (Table 5 (suggestive associations, Freckle, rs1042602); sample size Table 1)
- 1000 Genomes Project phase 3, people with 0, 1 and 2 copies
- All regions 1994 / 402 / 108 · Africa 645 / 16 / 0 · The Americas 207 / 115 / 25 · East Asia 503 / 1 / 0 · Europe 210 / 212 / 81 · South Asia 429 / 58 / 2
Limits
What it cannot tell you
A small effect; sun exposure and the IRF4 marker on the freckling card count for much more.
Web-based, participant-driven studies yield novel genetic associations for common traits (Eriksson et al., 2010)The same topic
More in Appearance
- Eye pigmentation
- Red hair association
- Blond hair association
- Hair shape
- Hair thickness association
- Skin pigmentation
- Freckling association
- Hair greying association
- Eyebrow thickness association
- Beard density association
- Unibrow association
- Nose bridge breadth association
- Nose wing breadth association
- Nose protrusion association
- Nose tip angle association
- Chin protrusion association
- Earlobe attachment association
- Earlobe size association
- Ear ridge folding association
- Male pattern hair loss
- Male pattern hair loss, HDAC9 marker
- Male pattern hair loss, EBF1 marker
- Male pattern hair loss, WNT10A marker
- Hair lightness, SLC24A4 marker
- Blond hair, TPCN2 marker
- Hair lightness, SLC45A2 marker
- Red hair, ASIP region marker
- Hair lightness, HERC2 marker
- Hair colour, IRF4 marker
- Hair shape, WNT10A marker
- Hair shape, PADI3 marker
- Hair shape, HOXC13 marker
- Hair shape, GATA3 region marker
- Hair shape, FRAS1 marker
- Hair shape, LCE3E marker
- Straight hair, EDAR marker
- Eyebrow thickness, FOXD1 region marker
- Eyebrow thickness, FOXL2 marker
- Shovel-shaped incisors
- Finger length ratio (SMOC1 marker)
- Finger length ratio (LDAH marker)
- Finger length ratio (SALL1 marker)
- Finger length ratio (OLA1 marker)
- Nose root position
- Nose wing breadth (PAX1 marker)
- Earlobe attachment (PAX9 marker)
- Earlobe attachment (KIAA1217 marker)
- Earlobe attachment (MRPS22 marker)
- Fingerprint whorls (ADAMTS9 marker)
- Fingerprint whorls (EVI1 marker)
- Fingerprint whorls (SALL3 marker)
- Green or hazel eyes
- Eye pigmentation (TYR)
- Skin pigmentation (OCA2 H615R)
- Freckling (PPARGC1B)
- Freckling (HSPA12A)
- Freckling (BNC2)
- Freckling (EMX2)
- Freckling (EIF6, ASIP region)
- Skin lightness (OCA2 A481T)
- Eye pigmentation (TSPAN10)
- Eye pigmentation (TYRP1)
- Eye pigmentation (SLC24A4)
- Eye pigmentation (SIK1)
- Eye pigmentation (OCA2 exon ten)
Free, once per account
See your own two letters.
Upload the raw DNA file you already have. Your report reads this marker and every other card studied for you, each with its evidence and its limits.