Genetic variant
rs12718597
rs12718597 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 rs12718597 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
We hold only the basic reference record for this variant: its ID and position. Many catalogued variants have never been linked to anything.
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 rs12718597, 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
- rs12718597
- Position
- chr7:50360730
Genome-wide association studies (18)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| BLVRB/PKLR protein level ratio | — | OR 0.13 | 2E-81 | PubMed |
| HMBS/PKLR protein level ratio | — | OR 0.11 | 4E-52 | PubMed |
| AHSP/CA2 protein level ratio | — | OR 0.1 | 8E-50 | PubMed |
| ARG1/HMBS protein level ratio | — | β 0.097 | 7E-46 | PubMed |
| AK1/DNPH1 protein level ratio | — | β 0.09 | 2E-37 | PubMed |
| AK1/PSMD9 protein level ratio | — | β 0.085 | 3E-33 | PubMed |
| ALDH1A1/PKLR protein level ratio | — | β 0.084 | 5E-33 | PubMed |
| PKLR/UBAC1 protein level ratio | — | β 0.083 | 8E-31 | PubMed |
| AHSP/HMBS protein level ratio | — | β 0.077 | 3E-29 | PubMed |
| CA1/TGM2 protein level ratio | — | β 0.079 | 4E-28 | PubMed |
| HMBS/TGM2 protein level ratio | — | β 0.078 | 1E-27 | PubMed |
| AHSP/HBQ1 protein level ratio | — | β 0.074 | 1E-26 | PubMed |
| CD2AP/PLPBP protein level ratio | — | β 0.069 | 1E-22 | PubMed |
| CC2D1A/CD2AP protein level ratio | — | β 0.067 | 6E-21 | PubMed |
| BLVRB/PSMD9 protein level ratio | — | β 0.064 | 3E-19 | PubMed |
| BLVRB/HAGH protein level ratio | — | β 0.061 | 4E-18 | PubMed |
| BLVRB/CA2 protein level ratio | — | β 0.058 | 3E-16 | PubMed |
| Mean corpuscular volume | A | β 0 | 5E-13 | PubMed |
Sources
- dbSNP: rs12718597 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies