Rs17822931

From SNPedia
Jump to: navigation, search

Orientationplus
is asnp
is mentioned by
dbSNPrs17822931
PheGenIrs17822931
nextbiors17822931
hapmaprs17822931
1000 genomesrs17822931
hgdprs17822931
ensemblrs17822931
gopubmedrs17822931
geneviewrs17822931
scholarrs17822931
googlers17822931
pharmgkbrs17822931
gwascentralrs17822931
openSNPrs17822931
23andMers17822931
23andMe allrs17822931
SNP Nexus

SNPshotrs17822931
SNPdbers17822931
MSV3drs17822931
GeneABCC11
Chromosome16
Orientationplus
Position48258198
ReferenceGRCh37 37.1/131
Max Magnitude2
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

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

[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

OMIM607040
Desc
Variant0001
Relatedalso


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.
Personal tools
Namespaces

Variants
Actions
Navigation
Toolbox