Genetic variant
rs4268748
rs4268748 is a single-letter difference in human DNA, on chromosome 16. 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 rs4268748 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Susceptibility loci associated cutaneous squamous cell carcinoma invasiveness.
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.
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 rs4268748, 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
- rs4268748
- Position
- chr16:89960104
Genome-wide association studies (12)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Actinic keratosis | C | OR 1.25 | 2E-61 | PubMed |
| Squamous cell carcinoma | C | OR 1.33 | 2E-44 | PubMed |
| Diseases of sebaceous glands (PheCode 706) | T | β 0.089 | 1E-39 | PubMed |
| Vitiligo | T | OR 1.41 | 3E-33 | PubMed |
| Seborrheic keratosis (PheCode 702.2) | T | β 0.068 | 3E-31 | PubMed |
| Seborrheic keratosis (PheCode 702.2) | T | β 0.065 | 4E-22 | PubMed |
| Benign neoplasm of skin (PheCode 216) | T | β 0.074 | 7E-19 | PubMed |
| Skin aging (microtopography measurement) | T | OR 0.13 | 1E-15 | PubMed |
| Skin colour saturation | C | β 0.009 | 3E-15 | PubMed |
| Melanoma in situ | T | OR 0.19 | 1E-13 | PubMed |
| Aging traits (healthspan, parental lifespan or longevity) (multivariate analysis) | T | — | 7E-12 | PubMed |
| Actinic keratosis | C | OR 1.29 | 2E-9 | PubMed |
Sources
- dbSNP: rs4268748 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies