Genetic variant
rs11591147
rs11591147 is a single-letter difference in human DNA, on chromosome 1. 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 rs11591147 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs11591147, also known as R46L, is a SNP in the PCSK9 gene. As early as 2006, the minor rs11591147(T...
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 rs11591147, 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
- rs11591147
- Position
- chr1:55039974
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Low density lipoprotein cholesterol levels | — | — | 3E-1364 | PubMed |
| Total cholesterol levels | — | — | 1E-1070 | PubMed |
| Low density lipoprotein cholesterol levels | T | OR 0.43 | 7E-1039 | PubMed |
| Non-HDL cholesterol levels | — | — | 8E-875 | PubMed |
| Total cholesterol levels | T | OR 0.38 | 2E-779 | PubMed |
| Non-HDL cholesterol levels | T | OR 0.41 | 4E-655 | PubMed |
| Low density lipoprotein cholesterol levels | T | OR 0.48 | 9E-591 | PubMed |
| Low density lipoprotein cholesterol levels | — | OR 0.47 | 3E-563 | PubMed |
| Apolipoprotein B levels | T | OR 0.45 | 8E-521 | PubMed |
| Total cholesterol levels | T | OR 0.44 | 4E-494 | PubMed |
| Low-density lipoprotein levels | T | OR 0.42 | 2E-449 | PubMed |
| LDL cholesterol levels | G | OR 0.35 | 2E-421 | PubMed |
| Apolipoprotein B levels | G | OR 0.35 | 3E-418 | PubMed |
| Total cholesterol levels | T | OR 0.39 | 4E-392 | PubMed |
| LDL cholesterol | T | OR 0.35 | 2E-335 | PubMed |
| low density lipoprotein cholesterol (LDLC, mean, inv-norm transformed) | G | OR 0.43 | 4E-295 | PubMed |
| low density lipoprotein cholesterol (LDLC, maximum, inv-norm transformed) | G | OR 0.42 | 4E-294 | PubMed |
| Total cholesterol levels | T | OR 0.31 | 2E-278 | PubMed |
| LDL cholesterol | T | OR 0.4 | 3E-257 | PubMed |
| Free cholesterol in IDL | T | OR 0.46 | 5E-222 | PubMed |
Sources
- dbSNP: rs11591147 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies