Genetic variant
rs1426654 a variant in the MYEF2 gene
rs1426654 is a single-letter difference in the MYEF2 gene, on chromosome 15. ClinVar, the public archive of variant interpretations, lists it as association: seen more often in people with a condition, which is not the same as causing it. It has been reported in connection with Skin/hair/eye pigmentation, variation in and 4. Carrying it does not, on its own, mean you have or will develop any condition.
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 rs1426654 is the catalogue number of one of them, in the MYEF2 gene. Which letters you carry there — one copy from each parent — is your genotype.
This SNP influences skin pigmentation. The allele, A111T, rs1426654(A), indicates light-skinned West...
From SNPedia
Why might it matter?
ClinVar records this variant as association, meaning seen more often in people with a condition, which is not the same as causing it. 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, variation in
- 4
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?
If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs1426654, if your test read this position.
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?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- 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
- rs1426654
- Gene
- MYEF2
- Position (GRCh38)
- chr15:48134286
- Variant type
- snv
- Consequence
- missense variant
- ClinVar classification
- association
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Skin, hair and eye pigmentation (multivariate analysis) | — | — | 4E-150 | PubMed |
| Skin pigmentation | — | — | 2E-130 | PubMed |
| Eye color (brightness) | — | — | 8E-50 | PubMed |
| Benign neoplasm of eye, uveal (PheCode 224.1) | A | OR 0.55 | 4E-49 | PubMed |
| Eye color (saturation) | — | — | 6E-45 | PubMed |
| Benign neoplasm of eye (PheCode 224) | A | OR 0.44 | 1E-39 | PubMed |
| Skin reflectance (Melanin index) | G | OR 0.7 | 3E-39 | PubMed |
| Skin pigmentation | G | OR 0.4 | 6E-39 | PubMed |
| Actinic keratosis (PheCode 702.1) | A | OR 0.45 | 8E-37 | PubMed |
| Eye color | — | — | 1E-26 | PubMed |
| Eye color | G | OR 0.68 | 3E-26 | PubMed |
| Actinic keratosis (PheCode 702.1) | A | OR 0.49 | 4E-25 | PubMed |
| Benign neoplasm of eye, uveal (PheCode 224.1) | A | OR 0.59 | 2E-24 | PubMed |
| Skin cancer | A | OR 0.5 | 7E-24 | PubMed |
| Actinic keratosis (PheCode 702.1) | A | OR 0.45 | 9E-23 | PubMed |
| Degenerative skin conditions and other dermatoses (PheCode 702) | A | OR 0.18 | 5E-22 | PubMed |
| Skin cancer | A | OR 0.3 | 6E-22 | PubMed |
| Other non-epithelial cancer of skin (PheCode 172.2) | A | OR 0.5 | 1E-19 | PubMed |
| Hair color | — | — | 1E-18 | PubMed |
| Benign neoplasm of eye (PheCode 224) | A | OR 0.43 | 1E-18 | PubMed |
How common the less frequent letter is
- gnomAD ALL
- 8.1%
- 1kG AFR
- 7.4%
- 1kG ALL
- 56.2%
- 1kG AMR
- 41.1%
- 1kG EAS
- 98.8%
- 1kG EUR
- 0.3%
- 1kG SAS
- 68.5%
Sources
- dbSNP: rs1426654 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: MYEF2
- Ensembl: MYEF2
- GWAS Catalog — association studies