Genetic variant
rs1427407
rs1427407 is a single-letter difference in human DNA, on chromosome 2. 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 rs1427407 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 rs1427407, 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
- rs1427407
- Position
- chr2:60490908
Genome-wide association studies (19)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| KEL protein levels | G | OR 0.14 | 7E-93 | PubMed |
| HEPACAM2 protein levels | G | OR 0.1 | 5E-55 | PubMed |
| Fetal hemoglobin levels in sickle cell anemia | — | OR 0.3 | 4E-53 | PubMed |
| Pyruvate levels | G | β 0.04 | 2E-51 | PubMed |
| GALNT5 protein levels | G | β 0.099 | 6E-36 | PubMed |
| ALDH1A1/PKLR protein level ratio | — | OR 0.11 | 2E-33 | PubMed |
| GCHFR protein levels | G | β 0.092 | 1E-32 | PubMed |
| F-cell distribution | — | OR 13.1 | 6E-31 | PubMed |
| BLVRB/PKLR protein level ratio | — | OR 0.1 | 7E-27 | PubMed |
| PKLR/PSMD9 protein level ratio | — | β 0.095 | 5E-23 | PubMed |
| DNPH1/PKLR protein level ratio | — | β 0.089 | 2E-20 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, mean, inv-norm transformed) | T | β 0.031 | 9E-20 | PubMed |
| PKLR/UBAC1 protein level ratio | — | β 0.087 | 2E-19 | PubMed |
| F-cell distribution in sickle cell anaemia | — | OR 1.98 | 2E-16 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, maximum, inv-norm transformed) | T | β 0.026 | 3E-15 | PubMed |
| hematocrit (maximum, inv-norm transformed) | T | β 0.026 | 4E-14 | PubMed |
| Pyruvate levels | T | β 0.038 | 2E-11 | PubMed |
| hematocrit (maximum, inv-norm transformed) | T | β 0.021 | 3E-11 | PubMed |
| Red blood cell side fluorescence | G | β 0.063 | 4E-9 | PubMed |
Sources
- dbSNP: rs1427407 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies