Genetic variant
rs12143842
rs12143842 is a single-letter difference in human DNA, on chromosome 1. 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 rs12143842 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs12143842 is a SNP within 100kb of the NOS1AP gene. A study of participants in the Rotterdam Study,...
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 rs12143842, 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
- rs12143842
- Position
- chr1:162064100
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| JT interval | T | OR 0.2 | 1E-794 | PubMed |
| QT interval | T | OR 0.2 | 1E-776 | PubMed |
| QT interval | T | OR 3.18 | 3E-255 | PubMed |
| QTc interval | — | OR 4.3 | 9E-236 | PubMed |
| QT interval | T | OR 3.5 | 1E-213 | PubMed |
| QT interval | C | OR 0.15 | 3E-114 | PubMed |
| ECG latent space | — | — | 4E-92 | PubMed |
| QT interval | T | OR 0.18 | 1E-83 | PubMed |
| QT interval | T | OR 2.88 | 2E-78 | PubMed |
| QT interval | T | OR 3.15 | 2E-78 | PubMed |
| ECG cardiac MRI latent space | — | — | 8E-76 | PubMed |
| QT interval | C | OR 0.12 | 2E-69 | PubMed |
| QT interval | T | OR 3.46 | 3E-42 | PubMed |
| QT interval | — | OR 3.22 | 3E-37 | PubMed |
| Electrocardiogram morphology (amplitude at temporal datapoints) | C | OR 0.1 | 9E-25 | PubMed |
| Electrocardiographic traits | T | OR 3.89 | 4E-18 | PubMed |
| T wave morphology restitution during recovery from exercise (MTAG) | C | β 0.059 | 5E-17 | PubMed |
| T wave morphology restitution during recovery from exercise | C | β 0.045 | 5E-16 | PubMed |
| QT interval | C | OR 3.14 | 2E-15 | PubMed |
| T wave morphology restitution during exercise (MTAG) | C | β 0.048 | 2E-13 | PubMed |
Sources
- dbSNP: rs12143842 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies