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][PMID 20675712] The perception of quinine taste intensity is associated with common genetic variants in a bitter receptor cluster on chromosome 12
|CLNSRC||ClinVar OMIM Allelic Variant|
[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 19779476] Sex differences in the effects of inherited bitter thiourea sensitivity on body weight in 4-6-year-old children.
|qualified_impact||Low clinical importance, Uncertain benign|
|summary||This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.|
[PMID 24083639] Variations in Bitter-Taste Receptor Genes, Dietary Intake, and Colorectal Adenoma Risk
[PMID 23133589] Bitter taste receptor polymorphisms and human aging.
|Trait||Bitter taste perception|
|Title||GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics.|
|Odds Ratio||.39 [0.34-0.44] unit decrease|