Rs713598

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Orientationminus
Geno Mag Summary
(C;C) 1.1 Can taste bitter.
(C;G) 1.1 Can taste bitter.
(G;G) 1.1 Possibly unable to taste bitter in some foods.
ReferenceGRCh38 38.1/141
Chromosome7
Position141973545
GeneMGAM, TAS2R38
is asnp
is mentioned by
dbSNPrs713598
Exacrs713598
PheGenIrs713598
nextbiors713598
hapmaprs713598
1000 genomesrs713598
hgdprs713598
ensemblrs713598
gopubmedrs713598
geneviewrs713598
scholarrs713598
googlers713598
pharmgkbrs713598
gwascentralrs713598
openSNPrs713598
23andMers713598
23andMe allrs713598
SNP Nexus

SNPshotrs713598
SNPdbers713598
MSV3drs713598
GMAF0.4692
? (C;C) (C;G) (G;G) 28
rs713598 is one of three SNPs that form the main haplotypes behind the ability to perceive as bitter the taste of the compound phenylthiocarbamide (PTC) and similar molecules in foods (like cabbage and raw broccoli) or drinks (like coffee and dark beers).

The rs713598(G) allele, in the orientation shown in dbSNP, is the "tasting" allele, and it is dominant to the "non-tasting" allele rs713598(C), so having one copy is enough to have the bitter tasting ability. If you are a "taster", you're also likely to carry at least one rs10246939(C) and one rs1726866(C) allele since, along with rs713598(G), these three SNPs form the most common tasting haplotype. If you lack these alleles, you're quite likely (~80%) to be a non-taster of bitterness, meaning that foods that may taste bitter to others taste far less bitter to you.[PMID 12595690]

Neighborrs1726866
Distance640
OMIM607751
DescTASTE RECEPTOR, TYPE 2, MEMBER 38; TAS2R38
Variant
Relatedalso
GWAS snp
PMID [PMID 20675712OA-icon.png]
Trait
Title The perception of quinine taste intensity is associated with common genetic variants in a bitter receptor cluster on chromosome 12
Risk Allele
P-val 2E-104
Odds Ratio None None
OMIM607751
Desc
Variant0001
Relatedalso


ClinVar
Risk rs713598(C;C)
Alt rs713598(C;C)
Reference rs713598(G;G)
Significance Drug-response
Disease Phenylthiocarbamide tasting
Variation info
Gene TAS2R38
CLNDBN Phenylthiocarbamide tasting
Reversed 1
HGVS NC_000007.13:g.141673345C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003038.1,



[PMID 15883422] TAS2R38 (phenylthiocarbamide) haplotypes, coronary heart disease traits, and eating behavior in the British Women's Heart and Health Study.

[PMID 18248681OA-icon.png] Prevalence of common disease-associated variants in Asian Indians.

[PMID 18834969OA-icon.png] A combinatorial approach to detecting gene-gene and gene-environment interactions in family studies.

[PMID 19092995OA-icon.png] Bitter taste receptors influence glucose homeostasis.

[PMID 19687126OA-icon.png] A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women.

[PMID 19779476OA-icon.png] Sex differences in the effects of inherited bitter thiourea sensitivity on body weight in 4-6-year-old children.

[PMID 21763010] Implication of the G145C polymorphism (rs713598) of the TAS2r38 gene on food consumption by Brazilian older women.


GET Evidence
TAS2R38-A49P
aa_change Ala49Pro
aa_change_short A49P
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.431121
summary This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.



Bitter Taste Perception


[PMID 24083639OA-icon.png] Variations in Bitter-Taste Receptor Genes, Dietary Intake, and Colorectal Adenoma Risk


[PMID 23133589OA-icon.png] Bitter taste receptor polymorphisms and human aging.