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Rs17822931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 Wet earwax. Normal body odour. Normal colostrum.
(C;T) 2 Wet earwax. Slightly better body odour.
(T;T) 2.5 Dry earwax. No body odour. Likely Asian ancestry. Reduced colostrum.
ReferenceGRCh38 38.1/141
Chromosome16
Position48224287
GeneABCC11
is asnp
is mentioned by
dbSNPrs17822931
ebirs17822931
Exacrs17822931
PheGenIrs17822931
hapmaprs17822931
1000 genomesrs17822931
hgdprs17822931
ensemblrs17822931
gopubmedrs17822931
geneviewrs17822931
scholarrs17822931
googlers17822931
pharmgkbrs17822931
gwascentralrs17822931
openSNPrs17822931
23andMers17822931
23andMe allrs17822931
SNP Nexus

SNPshotrs17822931
SNPdbers17822931
MSV3drs17822931
GWAS Ctlgrs17822931
GMAF0.3085
Max Magnitude2.5
? (C;C) (C;T) (T;T) 28
rs17822931, also known as c.538G>A or G180R, is a SNP in the ATP-binding cassette, sub-family C (CFTR/MRP), member 11 ABCC11 gene. The ABCC11 protein helps transport small molecules across apical membranes such as those in apocrine secretory cells.

[PMID 16444273] This SNP determines wet vs dry earwax as well as sweat production, and it is also associated with lipid secretion. It is commonly (T;T) for East Asians and (C;C) for Europeans and Africans.

[PMID 23325016OA-icon.png] A study of deodorant usage in a large (17,000+) population showed that rs17822931(T;T) individuals were at least 5-fold less likely to use deodorant, consistent with them being "genotypically nonodorous". Although not statistically significant, there was some evidence for a heterozygote effect, implying that individuals with a (C;C) genotype for this SNP were likely to use deodorant at a higher frequency than (C;T) genotypes.

gnxp indicates this SNP influences risk of breast cancer in Japanese women. This does not hold true in Caucasian women, though.[PMID 21655989]

reddit discussion


[PMID 23970085] Strong association of the SNP rs17822931 with wet earwax and bromhidrosis in a Chinese family


[PMID 23760047] The pharmacogenetics of body odor: as easy as ABCC?


[PMID 23325016OA-icon.png] Dependence of deodorant usage on ABCC11 genotype: scope for personalized genetics in personal hygiene.


[PMID 21423094] Down-regulation of ABCC11 protein (MRP8) in human breast cancer.


[PMID 20937735] The impact of natural selection on an ABCC11 SNP determining earwax type


[PMID 19737746OA-icon.png] Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.


[PMID 19650936OA-icon.png] A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene


[PMID 18817904OA-icon.png] Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.


[PMID 18037328] Allele frequencies of a SNP and a 27-bp deletion that are the determinant of earwax type in the ABCC11 gene.


[PMID 17394018] A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland.


[PMID 16444273] A SNP in the ABCC11 gene is the determinant of human earwax type.


[PMID 16255080OA-icon.png] A haplotype map of the human genome.

OMIM607040
DescATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11
Variant
Relatedalso
OMIM607040
Desc
Variant0001
Relatedalso


ClinVar
Risk rs17822931(T;T)
Alt rs17822931(T;T)
Reference rs17822931(C;C)
Significance Non-pathogenic
Disease Apocrine gland secretion Axillary odor Colostrum secretion
Variation info
Gene ABCC11
CLNDBN Apocrine gland secretion, variation in Axillary odor Colostrum secretion
Reversed 0
HGVS NC_000016.9:g.48258198C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003737.3, RCV000003738.2, RCV000003739.2,



GET Evidence
ABCC11-G180R
aa_change Gly180Arg
aa_change_short G180R
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0976947
summary This variant is associated with dry type ear wax (a benign trait) in a recessive manner.



[PMID 27268641] No Association of the rs17822931 Polymorphism in ABCC11 with Breast Cancer Risk in Koreans.