rs1805007 a variant in the MC1R 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 rs1805007 is the catalogue number of one of them, in the MC1R gene. Which letters you carry there — one copy from each parent — is your genotype.

MC1R (melanocortin 1 receptor): This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color.

Gene description from NCBI Gene

rs1805007, known as Arg151Cys or R151C, one of several SNPs in the MC1R gene associated with red hai...

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 2
• red hair/fair skin
• Increased analgesia from kappa-opioid receptor agonist, female-specific
• Albinism
• Oculocutaneous
• Type ii
• Modifier of
• Melanoma, cutaneous malignant, susceptibility to
• 5
• Skin/hair/eye pigmentation
• Variation in
• 2

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

rs1805007

Gene

MC1R

Position (GRCh38)

chr16:89919708

Variant type

snv

Consequence

missense variant

ClinVar classification

Conflicting classifications of pathogenicity

Genome-wide association studies (20)

How common the less frequent letter is

gnomAD ALL

7.8%

1kG AFR

99.7%

1kG ALL

98.1%

1kG AMR

98.4%

1kG EAS

99.9%

1kG EUR

92.8%

1kG SAS

99.5%

Sources

• dbSNP: rs1805007 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: MC1R
• Ensembl: MC1R
• GWAS Catalog — association studies

Related

Other variants in MC1R

• rs1805009
• rs1805006
• rs1310082996
• rs104894523
• rs33932559
• rs201533137
• rs11547464
• rs1110400
• rs201326893
• rs773260532

• The MC1R gene
• SNP explorer
• Gene directory
• Health conditions