Genetic variant
rs1130409
rs1130409 is a single-letter difference in human DNA, on chromosome 14. 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 rs1130409 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Haplotype-based case-control study between human apurinic/apyrimidinic endonuclease 1/redox effector factor-1 gene and cerebral infarction
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 rs1130409, 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
- rs1130409
- Position
- chr14:20456995
Genome-wide association studies (16)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| APEX1/SRP14 protein level ratio | — | OR 0.65 | 8E-2215 | PubMed |
| APEX1/ELOA protein level ratio | — | OR 0.62 | 8E-1940 | PubMed |
| APEX1/PSIP1 protein level ratio | — | OR 0.56 | 7E-1551 | PubMed |
| APEX1/FUS protein level ratio | — | OR 0.53 | 3E-1355 | PubMed |
| APEX1/LSP1 protein level ratio | — | OR 0.5 | 7E-1253 | PubMed |
| APEX1/HCLS1 protein level ratio | — | OR 0.44 | 3E-969 | PubMed |
| APEX1/GPKOW protein level ratio | — | OR 0.45 | 1E-951 | PubMed |
| APEX1/METAP2 protein level ratio | — | OR 0.43 | 2E-929 | PubMed |
| APEX1/DPY30 protein level ratio | — | OR 0.42 | 9E-891 | PubMed |
| APEX1/NMNAT1 protein level ratio | — | OR 0.41 | 3E-792 | PubMed |
| Liver APEX1 levels | G | — | 1E-18 | PubMed |
| DNA-(apurinic or apyrimidinic site) lyase levels | — | OR 0.26 | 2E-18 | PubMed |
| Aorta APEX1 levels | G | — | 3E-16 | PubMed |
| Skeletal muscle APEX1 levels | G | — | 3E-15 | PubMed |
| Mitochondrial DNA copy number (adjusted) | T | β 0.021 | 5E-9 | PubMed |
| Mammary artery APEX1 levels | G | — | 2E-7 | PubMed |
Sources
- dbSNP: rs1130409 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies