Genetic variant

rs56113850

rs56113850 is a single-letter difference in human DNA, on chromosome 19. 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 rs56113850 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

Genome-wide association of the laboratory-based nicotine metabolite ratio in three ancestries.

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 rs56113850, 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
rs56113850
Position
chr19:40847202

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Nicotine metabolite ratio in current smokers T OR 0.68 6E-261 PubMed
Cigarettes smoked per day C β 0.053 3E-214 PubMed
Cigarettes smoked per day C β 0.056 6E-207 PubMed
Smoking cessation C β 0.03 1E-120 PubMed
Smoking cessation C β 0.03 5E-114 PubMed
Alkaline phosphatase (UKB data field 30610) C β 0.039 6E-105 PubMed
Smoking behaviour (cigarettes smoked per day) C β 0.052 4E-99 PubMed
Serum alkaline phosphatase levels C β 0.047 1E-89 PubMed
Nicotine metabolite ratio in current smokers — OR 0.65 6E-86 PubMed
Cigarettes smoked per day (MTAG) T β 0.047 2E-78 PubMed
Smoking behaviour (cigarettes smoked per day) C β 0.072 3E-68 PubMed
Cigarettes smoked per day (MTAG) C β 0.036 5E-58 PubMed
Nicotine metabolite ratio in current smokers T OR 0.36 1E-50 PubMed
Smoking cessation C β 0.058 2E-48 PubMed
3-methylxanthine levels T OR 0.14 3E-44 PubMed
Lung cancer T OR 0.89 1E-43 PubMed
X-21286 levels T OR 0.13 7E-38 PubMed
Nicotine metabolite ratio in current smokers C OR 0.75 1E-37 PubMed
Glycine levels C β 0.02 1E-36 PubMed
X-12216 levels T OR 0.13 7E-35 PubMed

Sources