Genetic variant
rs3812316
rs3812316 is a single-letter difference in human DNA, on chromosome 7. 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 rs3812316 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs3812316, a SNP in the MLXIPL gene that is also known as G771C or Gln241His, has been observed in a...
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 rs3812316, 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
- rs3812316
- Position
- chr7:73606007
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Triglyceride levels | — | — | 2E-809 | PubMed |
| Triglyceride levels | G | OR 0.12 | 4E-487 | PubMed |
| Triglycerides in medium VLDL | G | OR 0.12 | 5E-334 | PubMed |
| triglyceride (mean, inv-norm transformed) | C | OR 0.18 | 2E-281 | PubMed |
| Monounsaturated fatty acid levels | G | OR 0.11 | 1E-275 | PubMed |
| triglyceride (minimum, inv-norm transformed) | C | OR 0.16 | 7E-255 | PubMed |
| triglyceride (maximum, inv-norm transformed) | C | OR 0.16 | 5E-247 | PubMed |
| Phospholipids to Total Lipids in Large LDL percentage | G | β 0.09 | 6E-196 | PubMed |
| Total fatty acid levels | G | β 0.09 | 2E-182 | PubMed |
| Cholesteryl Esters to Total Lipids in Large LDL percentage | G | β 0.09 | 2E-175 | PubMed |
| Monounsaturated fatty acids to total fatty acids percentage | G | — | 3E-167 | PubMed |
| Monounsaturated fatty acid levels | G | — | 6E-153 | PubMed |
| Saturated fatty acids levels | G | β 0.08 | 3E-147 | PubMed |
| Polyunsaturated fatty acids to monounsaturated fatty acids ratio | G | — | 2E-145 | PubMed |
| Triglycerides to total lipids ratio in very small VLDL | C | OR 0.15 | 1E-137 | PubMed |
| Free cholesterol to total lipids ratio in large LDL | C | OR 0.14 | 5E-133 | PubMed |
| Triglyceride levels in small VLDL | C | OR 0.14 | 1E-127 | PubMed |
| Cholesterol to total lipids ratio in very small VLDL | C | OR 0.14 | 1E-125 | PubMed |
| Cholesteryl esters to total lipids ratio in very small VLDL | C | OR 0.14 | 2E-124 | PubMed |
| Triglycerides in very large HDL | G | β 0.07 | 2E-124 | PubMed |
Sources
- dbSNP: rs3812316 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies