Genetic variant
rs5219
rs5219 is a single-letter difference in human DNA, on chromosome 11. 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 rs5219 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs5219, also known as E23K, is a SNP in the KCNJ11 gene. The association between type-1 diabetes and...
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 rs5219, 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 related to
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
- rs5219
- Position
- chr11:17388025
Genome-wide association studies (19)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Hemoglobin A1c (HbA1c, minimum, inv-norm transformed) | T | β 0.045 | 8E-53 | PubMed |
| Type 2 diabetes | C | β 0.069 | 3E-48 | PubMed |
| Hemoglobin A1c (HbA1c, minimum, inv-norm transformed) | T | β 0.038 | 1E-27 | PubMed |
| Type 2 diabetes (adjusted for BMI) | T | OR 1.07 | 2E-22 | PubMed |
| Type 2 diabetes | T | OR 1.06 | 6E-22 | PubMed |
| Glucose (fasting status unknown, mean, inv-norm transformed) | T | β 0.03 | 1E-21 | PubMed |
| hematocrit (maximum, inv-norm transformed) | T | β 0.02 | 2E-14 | PubMed |
| Glucose levels (UKB data field 30740) | C | β 0.017 | 3E-14 | PubMed |
| hemoglobin (maximum, inv-norm transformed) | T | β 0.018 | 1E-12 | PubMed |
| Systolic blood pressure | T | OR 0.32 | 5E-12 | PubMed |
| Type 2 diabetes | T | OR 1.14 | 7E-11 | PubMed |
| Type 2 diabetes | T | OR 1.14 | 7E-11 | PubMed |
| Body mass index | C | β 0.012 | 4E-10 | PubMed |
| Vertex-wise cortical surface area | T | OR 5.95 | 3E-9 | PubMed |
| Mean arterial pressure | T | OR 0.29 | 4E-9 | PubMed |
| Coronary artery disease (MTAG) | T | OR 5.69 | 1E-8 | PubMed |
| Pulse pressure | T | OR 0.18 | 3E-7 | PubMed |
| Type 2 diabetes | — | OR 1.19 | 5E-7 | PubMed |
| Type 2 diabetes | T | OR 1.04 | 4E-6 | PubMed |
Sources
- dbSNP: rs5219 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies