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Skin pigmentation

TYR · rs1042602

What the study found

Who was studied 363 South Asian ancestry low maxL* individuals, 374 South Asian ancestry high maxL* individuals; replicated in 116 South Asian ancestry low maxL* individuals, 115 South Asian ancestry high maxL* individuals.

The effect Each copy of the C allele carried 4.36 times the odds of Skin pigmentation (95% confidence interval 2.64-7.20); p = 4 × 10−10.

How common The C allele had a frequency of about 84% in the people studied.

Where it sits Chromosome 11, band 11q14.3 — a missense change in TYR.

What ClinVar records

Classification Conflicting classifications of pathogenicity for SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN, Oculocutaneous albinism type 1A, Oculocutaneous albinism, Oculocutaneous albinism type 1B, Albinism or congenital nystagmus and 1 more; criteria provided, conflicting classifications (1 of 4 stars, 24 submitters), last evaluated 2026-07-01. ClinVar record 3778 NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A No copy of the version the research linked to Skin pigmentation. This is the starting point the study compared everyone against.
A/C One copy of the version the research linked to Skin pigmentation. That is a smaller link than two copies.
C/C Two copies of the version the research linked to Skin pigmentation. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

What people read about alongside this

Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.

Questions about rs1042602

What is rs1042602?

rs1042602 is a single position in the genome, in or near the TYR gene. Published research associates it with skin pigmentation. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What do people read about alongside rs1042602?

Subjects that appear in the title or abstract of the same papers as this rsID include skin, sun and hair (8 papers), anxiety and worry (1 papers), depression and stress (1 papers), natural selection (1 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.

Does having rs1042602 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs1042602 come from?

GWAS Catalog, Am J Hum Genet 2007, PMID:17999355. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Skin pigmentation (rs1042602). MyGeneLog™. https://www.mygenelog.com/variants/rs1042602

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