Genetic variant
rs4442975
rs4442975 is a single-letter difference in human DNA, on chromosome 2. 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 rs4442975 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Unbiased analysis of potential targets of breast cancer susceptibility loci by Capture Hi-C
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 rs4442975, 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
- rs4442975
- Position
- chr2:217056046
Genome-wide association studies (11)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Breast cancer | T | OR 0.88 | 2E-97 | PubMed |
| Breast cancer | G | OR 1.12 | 1E-95 | PubMed |
| Breast cancer | T | OR 0.13 | 7E-32 | PubMed |
| Breast cancer | G | OR 1.13 | 2E-28 | PubMed |
| Breast cancer | T | OR 0.88 | 3E-22 | PubMed |
| Breast cancer | — | OR 1.15 | 5E-18 | PubMed |
| Breast cancer | T | OR 0.13 | 5E-18 | PubMed |
| Cancer | — | OR 0.96 | 2E-10 | PubMed |
| Cancer | — | OR 0.95 | 6E-10 | PubMed |
| Breast cancer | T | β 0.086 | 2E-7 | PubMed |
| Breast cancer (estrogen-receptor negative) | G | OR 1.06 | 3E-6 | PubMed |
Sources
- dbSNP: rs4442975 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies