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rs5020278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) "sweet" smeller
(A;G) "sweet" smeller
(G;G) "sweaty" smeller
ReferenceGRCh38 38.1/141
Chromosome19
Position9214440
GeneOR7D4
is asnp
is mentioned by
dbSNPrs5020278
dbSNP (classic)rs5020278
ClinGenrs5020278
ebirs5020278
HLIrs5020278
Exacrs5020278
Gnomadrs5020278
Varsomers5020278
LitVarrs5020278
Maprs5020278
PheGenIrs5020278
Biobankrs5020278
1000 genomesrs5020278
hgdprs5020278
ensemblrs5020278
geneviewrs5020278
scholarrs5020278
googlers5020278
pharmgkbrs5020278
gwascentralrs5020278
openSNPrs5020278
23andMers5020278
23andMe allrs5020278
SNPshotrs5020278
SNPdbers5020278
MSV3drs5020278
GWAS Ctlgrs5020278
GMAF0.1566
Max Magnitude0

rs5020278, a SNP in the OR7D4 olfactory receptor gene, is associated with how individuals perceive the smell of a testosterone-derived steroid, androstenone. This SNP is also known as T133M as it causes a change at amino acid 133 of the OR7D4 protein from threonine to methionine.


In the orientation reported for this SNP in dbSNP, most individuals (~75%) are homozygous for rs5020278(G), and perceive this steroid as smelling either strongly sweaty or like urine. Individuals with one or two copies of rs5020278(A) perceive the smell to be both weaker, and more sweet, with some likening it to vanilla or honey.[PMID 17873857]


[PMID 17873857] Genetic variation in a human odorant receptor alters odour perception.
A common variant of the receptor OR7D4, OR7D4 WM contains two non-synonymous single nucleotide polymorphisms (SNPs), resulting in two amino acid substitutions (R88W, T133M; hence 'RT') that severely impair function in vitro. Human subjects with RT/WM or WM/WM genotypes as a group were less sensitive to androstenone and androstadienone and found both odours less unpleasant than the RT/RT group.