Genetic variant
rs1378942
rs1378942 is a single-letter difference in human DNA, on chromosome 15. 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 rs1378942 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
23andMe blog blood pressure High Blood Pressure (Hypertension) [GWAS:Diastolic Blood Pressure]
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 rs1378942, 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
- rs1378942
- Position
- chr15:74785026
Genome-wide association studies (17)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Diastolic blood pressure (cigarette smoking interaction) | — | — | 8E-33 | PubMed |
| Systolic blood pressure (cigarette smoking interaction) | — | — | 1E-28 | PubMed |
| Diastolic blood pressure | C | OR 0.42 | 3E-26 | PubMed |
| Diastolic blood pressure | C | OR 0.43 | 1E-23 | PubMed |
| Systolic blood pressure | C | OR 0.61 | 6E-23 | PubMed |
| Systolic blood pressure | A | OR 0.32 | 1E-17 | PubMed |
| Diastolic blood pressure | A | OR 0.37 | 6E-16 | PubMed |
| Diastolic blood pressure | A | β 0.028 | 2E-15 | PubMed |
| Blood pressure | C | OR 0.39 | 2E-15 | PubMed |
| Systemic sclerosis | A | β 0.066 | 9E-15 | PubMed |
| Systemic sclerosis | C | OR 1.18 | 2E-14 | PubMed |
| Systolic blood pressure | A | OR 0.53 | 2E-12 | PubMed |
| Diastolic blood pressure | A | β 0.031 | 9E-12 | PubMed |
| Coronary artery disease and total cholesterol levels (multivariate analysis) | A | — | 2E-8 | PubMed |
| Diastolic blood pressure | A | OR 0.28 | 5E-6 | PubMed |
| Systemic lupus erythematosus | — | OR 1.11 | 5E-6 | PubMed |
| Hypertension | — | — | 8E-6 | PubMed |
Sources
- dbSNP: rs1378942 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies