ABCC11 G180R - GET-Evidence


ABCC11 G180R

(ABCC11 Gly180Arg)

Short summary

This variant is associated with dry type ear wax (a benign trait) in a recessive manner.

Variant evidence
Computational 1


Functional 1

ATP-dependent cGMP transport activity significantly reduced in cells expressing this variant

See Yoshiura K et al. 2006 (16444273).

Case/Control 5

Very low P value

See Yoshiura K et al. 2006 (16444273).

Familial 5

Well-established mendelian trait

See MATSUNAGA E 1962 (14471313).

Clinical importance
Severity -
Treatability -
Penetrance -


Low clinical importance, benign

(The "low clinical importance, " qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr16:48258198: 9.8% (1051/10758) in EVS
  • T @ chr16:46815698: 20.3% (26/128) in GET-Evidence
  • Frequency shown in summary reports: 9.8% (1051/10758)


MATSUNAGA E. The dimorphism in human normal cerumen. Ann Hum Genet. 1962 May;25:273-86. PubMed PMID: 14471313.


Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M, Nomura M, Liang DS, Miwa N, Kim DK, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kaneko A, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N. A SNP in the ABCC11 gene is the determinant of human earwax type. Nat Genet. 2006 Mar;38(3):324-30. Epub 2006 Jan 29. PubMed PMID: 16444273.



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr16:48258198


hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr16:48258198


hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr16:48258198




hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr16:48258198


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom T @ chr16:48258198


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr16:48258198


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr16:48258198


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr16:48258198


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr16:48258198


GS07357 - var-GS07357-1100-36-ASM
het T @ chr16:46815699


GS18526 - var-GS18526-1100-36-ASM
hom T @ chr16:46815699


GS18537 - var-GS18537-1100-36-ASM
het T @ chr16:46815699


GS18555 - var-GS18555-1100-36-ASM
hom T @ chr16:46815699


GS18558 - var-GS18558-1100-36-ASM
hom T @ chr16:46815699


GS18940 - var-GS18940-1100-36-ASM
hom T @ chr16:46815699


GS18942 - var-GS18942-1100-36-ASM
het T @ chr16:46815699


GS18947 - var-GS18947-1100-36-ASM
hom T @ chr16:46815699


GS18956 - var-GS18956-1100-36-ASM
hom T @ chr16:46815699


GS19700 - var-GS19700-1100-36-ASM
het T @ chr16:46815699


GS19704 - var-GS19704-1100-36-ASM
het T @ chr16:46815699


Other external references

  • rs17822931
  • Score: 0.992 (probably damaging)

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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