Genetic variant

rs459193

rs459193 is a single-letter difference in human DNA, on chromosome 5. 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 rs459193 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

Replication Study in a Japanese Population to Evaluate the Association between 10 SNP Loci, Identified in European Genome-Wide Association Studies, and Type 2 Diabetes

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 rs459193, 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
rs459193
Position
chr5:56510924

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Waist-to-hip ratio adjusted for BMI A β 0.029 3E-49 PubMed
Glucose (fasting status unknown, mean, inv-norm transformed) A β 0.041 3E-44 PubMed
Glucose (fasting status unknown, maximum, inv-norm transformed) A β 0.038 1E-39 PubMed
Diabetes mellitus (PheCode 250) A β 0.068 2E-37 PubMed
Type 2 diabetes (PheCode 250.2) A β 0.068 5E-37 PubMed
Glucose (fasting status unknown, maximum, inv-norm transformed) A β 0.036 9E-37 PubMed
Albumin levels A β 0.021 1E-36 PubMed
Diabetes / "Sugar" A β 0.074 2E-34 PubMed
Metabolic syndrome — β 0.027 4E-33 PubMed
high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) A β 0.038 3E-32 PubMed
high density lipoprotein cholesterol (HDLC, maximum, inv-norm transformed) A β 0.036 3E-30 PubMed
Type 2 diabetes G β 0.1 6E-30 PubMed
Triglycerides A β 0.032 9E-29 PubMed
Linoleic acid to total fatty acids percentage G β 0.02 1E-27 PubMed
Waist-hip ratio and HDL-C (pairwise) A — 4E-25 PubMed
Diabetic retinopathy (PheCode 250.7) A β 0.087 7E-25 PubMed
Hemoglobin A1c (HbA1c, maximum, inv-norm transformed) A β 0.033 2E-24 PubMed
triglyceride (minimum, inv-norm transformed) A β 0.029 6E-24 PubMed
HDL cholesterol A β 0.029 2E-23 PubMed
Hemoglobin A1c (HbA1c, mean, inv-norm transformed) A β 0.033 2E-23 PubMed

Sources