Genetic variant

rs713598 a variant in the TAS2R38 gene

rs713598 is a single-letter difference in the TAS2R38 gene, on chromosome 7. ClinVar, the public archive of variant interpretations, lists it as drug response: linked to how the body handles certain medicines. It has been reported in connection with Phenylthiocarbamide tasting. 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 rs713598 is the catalogue number of one of them, in the TAS2R38 gene. Which letters you carry there — one copy from each parent — is your genotype.

TAS2R38 (taste 2 receptor member 38): This gene encodes a seven-transmembrane G protein-coupled receptor that controls the ability to taste glucosinolates, a family of bitter-tasting compounds found in plants of the Brassica sp. Synthetic compounds phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) have been identified as ligands for this receptor and have been used to test the genetic diversity of this gene.

Gene description from NCBI Gene

rs713598 is one of three SNPs that form the main haplotypes behind the ability to perceive as bitter...

From SNPedia

Why might it matter?

ClinVar records this variant as drug response, meaning linked to how the body handles certain medicines. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

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 rs713598, 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
rs713598
Gene
TAS2R38
Position (GRCh38)
chr7:141973544
Variant type
snv
Consequence
missense variant
ClinVar classification
drug response

Genome-wide association studies (7)

TraitRisk alleleOR / betaP-valueStudy
Bitter taste response — — 2E-104 PubMed
Horseradish liking G β 0.041 5E-29 PubMed
Drinks per week G β 0.008 5E-22 PubMed
Drinks per week G β 0.009 1E-20 PubMed
Tea consumption G β 0.01 3E-10 PubMed
Alcohol liking G β 0.077 1E-9 PubMed
Whiskey liking G β 0.022 1E-9 PubMed

How common the less frequent letter is

gnomAD ALL
0%
1kG AFR
47.5%
1kG ALL
50.5%
1kG AMR
34.1%
1kG EAS
32.4%
1kG EUR
57.8%
1kG SAS
65.5%

Sources