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 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
|Disease||Apocrine gland secretion|
|CLNDBN||Apocrine gland secretion, variation in|
|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.
|qualified_impact||Low clinical importance, Uncertain benign|
|summary||This variant is associated with dry type ear wax (a benign trait) in a recessive manner.|