Genetic variant
rs16891982
rs16891982 is a single-letter difference in human DNA, on chromosome 5. 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 rs16891982 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
This snp influences skin pigmentation. The allele p.L374F indicates light-skinned european ancestry ...
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 rs16891982, 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
- rs16891982
- Position
- chr5:33951588
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Sunburns | — | — | 3E-320 | PubMed |
| Actinic keratosis (PheCode 702.1) | C | OR 0.6 | 2E-311 | PubMed |
| Brown vs. black hair color | — | OR 2.83 | 2E-308 | PubMed |
| Urea levels | — | — | 1E-263 | PubMed |
| Eye color | G | OR 0.65 | 2E-255 | PubMed |
| Actinic keratosis (PheCode 702.1) | C | OR 0.63 | 4E-255 | PubMed |
| Skin cancer | C | OR 0.56 | 1E-240 | PubMed |
| Other non-epithelial cancer of skin (PheCode 172.2) | C | OR 0.54 | 1E-181 | PubMed |
| Blond vs. brown/black hair color | — | OR 3.29 | 3E-181 | PubMed |
| Low tan response | C | OR 0.92 | 2E-176 | PubMed |
| Degenerative skin conditions and other dermatoses (PheCode 702) | C | OR 0.37 | 7E-175 | PubMed |
| Skin cancer | C | OR 0.51 | 8E-174 | PubMed |
| Skin phototype score | C | OR 9.47 | 3E-150 | PubMed |
| Melanomas of skin, dx or hx (PheCode 172.1) | C | OR 0.61 | 2E-141 | PubMed |
| Skin color | C | OR 0.55 | 1E-140 | PubMed |
| Other non-epithelial cancer of skin (PheCode 172.2) | C | OR 0.5 | 2E-140 | PubMed |
| Degenerative skin conditions and other dermatoses (PheCode 702) | C | OR 0.32 | 3E-135 | PubMed |
| Skin cancer | C | OR 0.54 | 6E-134 | PubMed |
| Melanomas of skin, dx or hx (PheCode 172.1) | C | OR 0.58 | 8E-128 | PubMed |
| Skin cancer | C | OR 0.52 | 8E-118 | PubMed |
Sources
- dbSNP: rs16891982 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies