Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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Edited in this revision:
Associated with thicker hair, found in Chinese and Japanese samples.
Other variants in this gene are associated with effect on hair thickness. Polyphen gives possible functional effect.
Insufficiently evaluated benign
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
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Mou C, Thomason HA, Willan PM, Clowes C, Harris WE, Drew CF, Dixon J, Dixon
MJ, Headon DJ. Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple
fiber characteristics to produce the East Asian hair form. Hum Mutat. 2008
Dec;29(12):1405-11. PubMed PMID: 18561327.
Fujimoto A, Ohashi J, Nishida N, Miyagawa T, Morishita Y, Tsunoda T, Kimura R,
Tokunaga K. A replication study confirmed the EDAR gene to be a major contributor
to population differentiation regarding head hair thickness in Asia. Hum Genet.
2008 Sep;124(2):179-85. Epub 2008 Aug 13. PubMed PMID: 18704500.
Kimura R, Yamaguchi T, Takeda M, Kondo O, Toma T, Haneji K, Hanihara T,
Matsukusa H, Kawamura S, Maki K, Osawa M, Ishida H, Oota H. A common variation in
EDAR is a genetic determinant of shovel-shaped incisors. Am J Hum Genet. 2009
Oct;85(4):528-35. PubMed PMID: 19804850; PubMed Central PMCID: PMC2756549.
huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr2:109513601