|(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.|
Due to it's minus orientation and nearly 50/50 split of allele frequency it is easily confused.
In the orientation shown in dbSNP and used in SNPedia
In the GRCh37 orientation currently (2017) reported by 23andMe
Tasting is dominant, so heterozygotes are able to taste bitterness.
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]
|Title||The perception of quinine taste intensity is associated with common genetic variants in a bitter receptor cluster on chromosome 12|
|Odds Ratio||None None|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
[PMID 15883422] TAS2R38 (phenylthiocarbamide) haplotypes, coronary heart disease traits, and eating behavior in the British Women's Heart and Health Study.
[PMID 18248681] Prevalence of common disease-associated variants in Asian Indians.
[PMID 18834969] A combinatorial approach to detecting gene-gene and gene-environment interactions in family studies.
[PMID 19092995] Bitter taste receptors influence glucose homeostasis.
[PMID 19687126] A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women.
[PMID 19779476] 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.
|qualified_impact||Low clinical importance, Uncertain benign|
|summary||This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.|
[PMID 24083639] Variations in Bitter-Taste Receptor Genes, Dietary Intake, and Colorectal Adenoma Risk
[PMID 23133589] Bitter taste receptor polymorphisms and human aging.
[PMID 25257701] Polymorphisms in TRPV1 and TAS2Rs associate with sensations from sampled ethanol