Genetic variant
rs2393791
rs2393791 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 rs2393791 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-rea...
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 rs2393791, 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
- rs2393791
- Position
- chr12:120986153
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Liver enzyme levels (alkaline phosphatase) | C | β 0.007 | 5E-202 | PubMed |
| Alkaline phosphatase (UKB data field 30610) | T | β 0.053 | 8E-192 | PubMed |
| FUT3 or FUT5 protein levels | T | OR 0.13 | 1E-147 | PubMed |
| CEACAM1/GGT1 protein level ratio | — | OR 0.16 | 4E-128 | PubMed |
| Serum alkaline phosphatase levels | T | β 0.049 | 8E-126 | PubMed |
| ENPP2 protein levels | T | β 0.075 | 2E-72 | PubMed |
| C-reactive protein levels | — | OR 0.11 | 2E-42 | PubMed |
| AMOT protein levels | T | β 0.077 | 6E-42 | PubMed |
| IL1R2 protein levels | T | β 0.063 | 1E-36 | PubMed |
| Height | C | β 0.007 | 3E-32 | PubMed |
| Tyrosine levels | T | β 0.047 | 4E-30 | PubMed |
| Gamma glutamyl transpeptidase | G | β 0.008 | 7E-30 | PubMed |
| Sex hormone-binding globulin levels | T | OR 0.89 | 3E-27 | PubMed |
| Gallstone disease | T | OR 1.09 | 8E-27 | PubMed |
| AFP levels | — | β 0.088 | 2E-26 | PubMed |
| CTSF protein levels | T | β 0.051 | 8E-22 | PubMed |
| GPC5 protein levels | T | β 0.044 | 4E-21 | PubMed |
| Phospholipids to Total Lipids in Very Large VLDL percentage | T | β 0.02 | 3E-19 | PubMed |
| Cholelithiasis (UKB data field 20002_1162) | — | OR 0.91 | 5E-17 | PubMed |
| Triglycerides in large HDL | T | β 0.034 | 2E-16 | PubMed |
Sources
- dbSNP: rs2393791 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies