Genetic variant
rs16991615
rs16991615 is a single-letter difference in human DNA, on chromosome 20. 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 rs16991615 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs16991615 is a nonsynonymous SNP on chromosome 20. A case control study of ~2,000 women found that ...
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 rs16991615, 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
- rs16991615
- Position
- chr20:5967581
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Age at natural menopause | A | OR 0.93 | 6E-611 | PubMed |
| Age at natural menopause or uterine leiomyomata (pleiotropy) | A | — | 1E-324 | PubMed |
| Age at menopause | — | — | 1E-143 | PubMed |
| Menopause (age at onset) | G | OR 0.88 | 2E-89 | PubMed |
| Menopause (age at onset) | A | OR 0.95 | 1E-73 | PubMed |
| CHGB protein levels | A | OR 0.14 | 6E-43 | PubMed |
| Years ovulating | A | OR 1.03 | 2E-41 | PubMed |
| Follicle stimulating hormone levels | A | OR 0.14 | 1E-29 | PubMed |
| Follicle stimulating hormone levels | A | OR 0.14 | 1E-29 | PubMed |
| Detectable estradiol levels | A | OR 1.21 | 3E-25 | PubMed |
| Detectable estradiol levels | A | β 0.062 | 4E-25 | PubMed |
| Detectable estradiol levels | — | OR 10.28 | 9E-25 | PubMed |
| Detectable estradiol levels in postmenopausal women | A | OR 0.1 | 4E-24 | PubMed |
| Menarche and menopause (age at onset) | A | OR 1.07 | 1E-21 | PubMed |
| Detectable estradiol levels in premenopausal women | A | OR 0.1 | 2E-17 | PubMed |
| Luteinizing hormone levels | A | OR 0.12 | 2E-15 | PubMed |
| Luteinizing hormone levels | A | OR 0.12 | 2E-15 | PubMed |
| Uterine leiomyoma or ER positive breast cancer (pleiotropy) | A | — | 2E-13 | PubMed |
| Menopause (age at onset) | A | OR 0.46 | 5E-12 | PubMed |
| Uterine leiomyoma or ER negative breast cancer (pleiotropy) | A | — | 8E-12 | PubMed |
Sources
- dbSNP: rs16991615 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies