Genetic variant
rs4363657
rs4363657 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 rs4363657 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs4363657 is a SNP in the SLCO1B1 gene, a gene which encodes a protein involved in the liver's uptak...
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 rs4363657, 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
- rs4363657
- Position
- chr12:21215788
Genome-wide association studies (15)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| 21-hydroxypregnenolone disulfate levels | T | OR 0.2 | 2E-49 | PubMed |
| Blood metabolite levels | — | — | 9E-46 | PubMed |
| 4-androsten-3beta,17beta-diol disulfate (2) levels | T | OR 0.19 | 8E-43 | PubMed |
| X-21339 levels | C | OR 0.26 | 3E-38 | PubMed |
| Lysophosphatidylethanolamine_20:4_[M-H]1- levels | C | OR 0.15 | 4E-20 | PubMed |
| Glycodeoxycholate glucuronide (1) levels | — | OR 1.11 | 3E-15 | PubMed |
| Lysophosphatidylethanolamine_22:6_[M-H]1- levels | C | OR 0.13 | 4E-15 | PubMed |
| Monocyte percentage (UKB data field 30190) | C | β 0.019 | 9E-15 | PubMed |
| MBL2 protein levels | C | β 0.043 | 2E-14 | PubMed |
| Glycochenodeoxycholate glucuronide (1) levels in elite athletes | — | OR 0.69 | 7E-13 | PubMed |
| Glycocholenate sulfate levels | — | OR 0.66 | 1E-11 | PubMed |
| Monocyte count (UKB data field 30130) | C | β 0.017 | 1E-11 | PubMed |
| AUC of atorvastatin | A | OR 0.3 | 5E-10 | PubMed |
| Bilirubin levels | — | β 0.064 | 5E-8 | PubMed |
| Glycodeoxycholate sulfate levels in elite athletes | — | OR 0.41 | 7E-6 | PubMed |
Sources
- dbSNP: rs4363657 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies