Rs17822931

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs17822931
PheGenI	rs17822931
nextbio	rs17822931
hapmap	rs17822931
1000 genomes	rs17822931
hgdp	rs17822931
ensembl	rs17822931
gopubmed	rs17822931
geneview	rs17822931
scholar	rs17822931
google	rs17822931
pharmgkb	rs17822931
gwascentral	rs17822931
openSNP	rs17822931
23andMe	rs17822931
23andMe all	rs17822931
SNP Nexus
SNPshot	rs17822931
SNPdbe	rs17822931
MSV3d	rs17822931

Gene

ABCC11

Chromosome

16

Orientation

plus

Position

48258198

Reference

GRCh37 37.1/131

Max Magnitude

2

Geno	Mag	Summary
(C;C)	0	wet earwax
(C;T)	2	wet earwax
(T;T)		dry earwax

?	(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.

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

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

OMIM	607040
Desc	ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11
Variant
Related	also

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

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

OMIM	607040
Desc
Variant	0001
Related	also

ClinVar
Risk	rs17822931(T;T)
Normal	rs17822931(C;C)
Significance	5
Disease	Apocrine gland secretion
ClinVar	info
Gene	ABCC11
CLNDBN	Apocrine gland secretion, variation in
Reversed	0
CLNHGVS	NC_000016.9:g.48258198C>T
CLNSRC	OMIM Allelic Variant

[PMID 16255080] A haplotype map of the human genome.

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

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

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

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

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

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.