Genetic variant
rs4728142
rs4728142 is a single-letter difference in human DNA, on chromosome 7. 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 rs4728142 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs4728142, rs3807306 and a 5 bp insertion-deletion linked multiple sclerosis in three populations Th...
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 rs4728142, 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
- rs4728142
- Position
- chr7:128933913
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Systemic lupus erythematosus (MTAG) | G | OR 0.2 | 7E-96 | PubMed |
| Systemic lupus erythematosus | A | OR 1.76 | 1E-23 | PubMed |
| Systemic lupus erythematosus | A | OR 1.43 | 8E-19 | PubMed |
| Systemic sclerosis | A | β 0.092 | 2E-15 | PubMed |
| Ulcerative colitis | A | OR 1.1 | 2E-14 | PubMed |
| Ulcerative colitis | A | OR 1.1 | 4E-14 | PubMed |
| Liver enzyme levels (alkaline phosphatase) | G | β 0.002 | 7E-14 | PubMed |
| Systolic blood pressure | A | OR 0.17 | 4E-12 | PubMed |
| Rheumatoid arthritis (ACPA-positive) | A | OR 1.13 | 5E-12 | PubMed |
| Chronic inflammatory diseases (ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | — | — | 2E-11 | PubMed |
| Systemic lupus erythematosus | A | OR 1.59 | 3E-11 | PubMed |
| Ulcerative colitis | — | — | 3E-10 | PubMed |
| Systemic lupus erythematosus | A | OR 1.45 | 7E-10 | PubMed |
| Rheumatoid arthritis | A | OR 0.2 | 7E-10 | PubMed |
| Pulse pressure | A | OR 0.1 | 3E-9 | PubMed |
| Multiple sclerosis | A | OR 1.06 | 3E-9 | PubMed |
| Ulcerative colitis | A | OR 1.07 | 2E-8 | PubMed |
| Ulcerative colitis | A | OR 1.4 | 3E-8 | PubMed |
| Systolic blood pressure | A | OR 0.24 | 3E-8 | PubMed |
| Hypertension | A | OR 5.16 | 3E-7 | PubMed |
Sources
- dbSNP: rs4728142 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies