Genetic variant

rs1303

rs1303 is a single-letter difference in human DNA, on chromosome 14. 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 rs1303 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

finds no association between rs1303 and pulmonary emphysema [OMIM:PI M3] [GWAS:Metabolite levels]

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 rs1303, 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?

  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.

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
rs1303
Position
chr14:94378506

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Glycogen synthase kinase-3 beta (analyte X3236.12) levels G OR 0.71 2E-151 PubMed
ACP5 protein levels G β 0.088 3E-56 PubMed
Metabolite levels — — 5E-48 PubMed
Galactokinase levels G OR 0.36 4E-40 PubMed
PH and SEC7 domain-containing protein 1 levels (PSD.13055.53.3) G OR 0.36 5E-39 PubMed
Cyclin-dependent kinase-like 2 levels G OR 0.4 3E-35 PubMed
39S ribosomal protein L33, mitochondrial levels G OR 0.35 8E-35 PubMed
ASPN protein levels G β 0.066 3E-25 PubMed
Cholesteryl Esters to Total Lipids in Chylomicrons and Extremely Large VLDL percentage G β 0.02 1E-24 PubMed
Free cholesterol to total lipids ratio in small HDL T β 0.04 9E-19 PubMed
Linoleic acid to total fatty acids percentage G β 0.02 4E-17 PubMed
Asporin levels T OR 0.12 6E-17 PubMed
Free cholesterol to total lipids ratio in small VLDL T β 0.038 7E-17 PubMed
Cholesteryl esters to total lipids ratio in large VLDL T β 0.036 5E-15 PubMed
Cas scaffolding protein family member 4 levels G OR 0.2 1E-13 PubMed
mRNA-decapping enzyme 1B levels G OR 0.2 2E-13 PubMed
Monounsaturated fatty acids to total fatty acids percentage G β 0.02 5E-13 PubMed
Phospholipids to total lipids ratio in small HDL T β 0.033 6E-13 PubMed
FSTL1 protein levels G β 0.048 7E-13 PubMed
Cholesteryl esters to total lipids ratio in medium VLDL T β 0.032 7E-13 PubMed

Sources