Genetic variant
rs1169288
rs1169288 is a single-letter difference in human DNA, on chromosome 12. 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 rs1169288 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs1169288 (Ile27Leu) is a SNP in located within the HNF1A (Hepatocyte nuclear factor 1 homeobox A) g...
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 rs1169288, 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
- rs1169288
- Position
- chr12:120978847
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| IL1RL2 protein levels | C | OR 0.14 | 9E-176 | PubMed |
| Total cholesterol levels | — | — | 3E-136 | PubMed |
| Low density lipoprotein cholesterol levels | — | — | 6E-130 | PubMed |
| ACE2 protein levels | C | OR 0.12 | 2E-110 | PubMed |
| Total cholesterol levels | A | β 0.034 | 5E-99 | PubMed |
| Low density lipoprotein cholesterol levels | C | β 0.036 | 5E-96 | PubMed |
| Total cholesterol levels | C | β 0.036 | 3E-95 | PubMed |
| ACE2 levels | A | OR 0.18 | 5E-78 | PubMed |
| Low density lipoprotein cholesterol levels | A | β 0.038 | 3E-76 | PubMed |
| Low-density lipoprotein levels | A | β 0.031 | 2E-74 | PubMed |
| CTSV protein levels | C | β 0.094 | 3E-69 | PubMed |
| Non-HDL cholesterol levels | C | β 0.032 | 2E-54 | PubMed |
| chloride (mean, inv-norm transformed) | A | β 0.041 | 1E-47 | PubMed |
| Low density lipoprotein cholesterol levels | — | β 0.039 | 4E-45 | PubMed |
| chloride (minimum, inv-norm transformed) | A | β 0.036 | 6E-39 | PubMed |
| Medication use for hyperlipidemia (number of purchases) | — | β 0.016 | 7E-36 | PubMed |
| chloride (mean, inv-norm transformed) | A | β 0.036 | 5E-34 | PubMed |
| total cholesterol (maximum, inv-norm transformed) | A | β 0.032 | 4E-32 | PubMed |
| Type 2 diabetes mellitus or coronary artery disease (pleiotropy) | — | — | 6E-31 | PubMed |
| Total cholesterol levels | A | β 0.034 | 2E-30 | PubMed |
Sources
- dbSNP: rs1169288 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies