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rs10246939

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0.1 can taste bitter
(C;T) 0.1 can taste bitter
(T;T) 1.1 possibly unable to taste bitterness
ReferenceGRCh38 38.1/141
Chromosome7
Position141972804
GeneTAS2R38
is asnp
is mentioned by
dbSNPrs10246939
dbSNP (classic)rs10246939
ClinGenrs10246939
ebirs10246939
HLIrs10246939
Exacrs10246939
Gnomadrs10246939
Varsomers10246939
LitVarrs10246939
Maprs10246939
PheGenIrs10246939
Biobankrs10246939
1000 genomesrs10246939
hgdprs10246939
ensemblrs10246939
geneviewrs10246939
scholarrs10246939
googlers10246939
pharmgkbrs10246939
gwascentralrs10246939
openSNPrs10246939
23andMers10246939
SNPshotrs10246939
SNPdbers10246939
MSV3drs10246939
GWAS Ctlgrs10246939
GMAF0.4509
Max Magnitude1.1
? (C;C) (C;T) (T;T) 28


rs10246939 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 rs10246939(C) allele, in the orientation shown in dbSNP, is the "tasting" allele, and it is dominant to the "non-tasting" allele rs10246939(T), 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 rs713598(G) and one rs1726866(C) allele since, along with rs10246939(C), 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]


OMIM607751
DescTASTE RECEPTOR, TYPE 2, MEMBER 38; TAS2R38
Variant0003
Relatedalso


[PMID 20675712OA-icon.png] The perception of quinine taste intensity is associated with common genetic variants in a bitter receptor cluster on chromosome 12


ClinVar
Risk Rs10246939(C;C)
Alt Rs10246939(C;C)
Reference Rs10246939(T;T)
Significance Drug-response
Disease Phenylthiocarbamide tasting
Variation info
Gene TAS2R38
CLNDBN Phenylthiocarbamide tasting
Reversed 0
HGVS NC_000007.13:g.141672604T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003040.1,



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



[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.

GWAS snp
PMID [PMID 23966204OA-icon.png]
Trait Bitter taste perception
Title GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics.
Risk Allele
P-val 2E-62
Odds Ratio .39 [0.34-0.44] unit decrease


[PMID 25257701OA-icon.png] Polymorphisms in TRPV1 and TAS2Rs associate with sensations from sampled ethanol