rs1042602 a variant in the TYR gene

What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs1042602 is the catalogue number of one of them, in the TYR gene. Which letters you carry there — one copy from each parent — is your genotype.

TYR (tyrosinase): The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation.

Gene description from NCBI Gene

Influences appearance The A allele of rs1042602 is associated with the absence of freckles [OMIM:SK...

From SNPedia

Why might it matter?

ClinVar records this variant as conflicting interpretations, meaning laboratories that have assessed it do not agree on whether it matters. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

• Skin/hair/eye pigmentation 3
• Light/dark skin
• Oculocutaneous albinism type 1A
• Oculocutaneous albinism
• Oculocutaneous albinism type 1B
• Albinism or congenital nystagmus
• Pigmentary skin disorders

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

Do I have this variant?

Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

What should I do next?

1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.

This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID

rs1042602

Gene

TYR

Position (GRCh38)

chr11:89178527

Variant type

snv

Consequence

missense variant

ClinVar classification

Conflicting classifications of pathogenicity

Genome-wide association studies (20)

ClinVar submissions (14)

How common the less frequent letter is

gnomAD ALL

32.2%

1kG AFR

1.2%

1kG ALL

12.3%

1kG AMR

76.2%

1kG EAS

0.1%

1kG EUR

37.2%

1kG SAS

93.7%

Sources

• dbSNP: rs1042602 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: TYR
• Ensembl: TYR
• GWAS Catalog — association studies

Related

Other variants in TYR

• rs281865527
• rs28940876
• rs104894314
• rs61754388
• rs121908011
• rs61753185
• rs104894313
• rs1126809
• rs28940877
• rs61754393

• The TYR gene
• SNP explorer
• Gene directory
• Health conditions