Genetic variant

rs301

rs301 is a single-letter difference in human DNA, on chromosome 8. Carrying it does not, on its own, mean you have or will develop any condition.

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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 rs301 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

We hold only the basic reference record for this variant: its ID and position. Many catalogued variants have never been linked to anything.

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 rs301, if your test read this position.

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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.

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What should I do next?

  1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
  2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
  3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
  4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
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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
rs301
Position
chr8:19959423

Genome-wide association studies (19)

TraitRisk alleleOR / betaP-valueStudy
Multi-trait sex score — — 9E-73 PubMed
Multi-trait sex score — — 1E-60 PubMed
HDL cholesterol levels C OR 0.17 6E-40 PubMed
Triacylglyceride levels C OR 0.16 9E-27 PubMed
Fasting mean diameter of HDL particles C OR 0.2 2E-16 PubMed
Postprandial mean diameter of HDL particles C OR 0.2 3E-16 PubMed
Type 2 diabetes mellitus or coronary artery disease (pleiotropy) — — 2E-14 PubMed
Diacylglycerol_36:3_[M+H-H2O]1+ levels C β 0.088 7E-13 PubMed
Postprandial phospholipid levels in very large HDL C OR 0.17 7E-12 PubMed
Diacylglycerol_34:2_[M+H-H2O]1+ levels C β 0.082 1E-11 PubMed
Phosphatidylcholine_34:0_[M+H]1+/Phosphatidylethanolamine_37:0_[M+H]1+/Phosphatidate_39:1_[M+NH4]1+ levels C β 0.092 1E-11 PubMed
Sphingomyelin_38:1_[M+H]1+ levels C β 0.091 2E-11 PubMed
Metabolic syndrome (bivariate traits) C OR 0.22 3E-11 PubMed
Phosphatidylcholine-O_32:1_[M+H]1+/Phosphatidylcholine-P_32:0_[M+H]1+/Phosphatidylethanolamine-O_35:1_[M+H]1+ levels C β 0.09 6E-11 PubMed
Phosphatidylcholine_34:1_[M+H]1+/Phosphatidylethanolamine_37:1_[M+H]1+/Phosphatidate_39:2_[M+NH4]1+ levels C β 0.088 7E-11 PubMed
Triacylglycerol_52:3_[M+NH4]1+ levels C OR 0.11 1E-10 PubMed
Phosphatidylcholine-O_34:1_[M+H]1+/Phosphatidylcholine-P_34:0_[M+H]1+/Phosphatidylethanolamine-O_37:1_[M+H]1+ levels C β 0.085 1E-10 PubMed
Diacylglycerol_36:2_[M+H-H2O]1+ levels C β 0.077 2E-10 PubMed
Postprandial isoleucine C OR 0.15 7E-10 PubMed

Sources