Genetic variant
rs12821256 a variant in the KITLG gene
rs12821256 is a single-letter difference in the KITLG gene, on chromosome 12. It has been reported in connection with Skin/hair/eye pigmentation 7 and Dark/light skin. 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 rs12821256 is the catalogue number of one of them, in the KITLG gene. Which letters you carry there — one copy from each parent — is your genotype.
KITLG (KIT ligand): This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis.
Gene description from NCBI Gene
A 2007 study based on the Icelanders and Dutch concluded that individuals with an rs12821256(C) alle...
From SNPedia
Why might it matter?
ClinVar holds no clinical classification for this variant. That is the usual case: most catalogued variants have no known effect on health.
Conditions it has been reported with
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 rs12821256, 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
- rs12821256
- Gene
- KITLG
- Position (GRCh38)
- chr12:88934557
- Variant type
- snv
- Consequence
- regulatory region variant
- ClinVar classification
- Affects
Genome-wide association studies (9)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Blond vs. brown/black hair color | C | OR 1.66 | 2E-308 | PubMed |
| Hair color | T | OR 0.2 | 1E-100 | PubMed |
| Brown vs. black hair color | C | OR 1.45 | 1E-62 | PubMed |
| Blond vs. brown hair color | C | OR 2.32 | 4E-30 | PubMed |
| Hair color | C | OR 0.18 | 7E-19 | PubMed |
| Blond vs. brown/black hair color | T | OR 0.47 | 9E-11 | PubMed |
| Light vs. dark hair color | — | OR 1.48 | 1E-10 | PubMed |
| Blond vs non-blond hair color | — | OR 1.49 | 1E-10 | PubMed |
| Brown vs. non-brown hair color | — | OR 1.44 | 1E-9 | PubMed |
ClinVar submissions (4)
How common the less frequent letter is
- 1kG AFR
- 0.2%
- 1kG ALL
- 3.2%
- 1kG AMR
- 97.4%
- 1kG EAS
- 100%
- 1kG EUR
- 12.1%
- 1kG SAS
- 98.4%
Sources
- dbSNP: rs12821256 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: KITLG
- Ensembl: KITLG
- GWAS Catalog — association studies