Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.
Please help improve GET-Evidence by evaluating evidence for this variant!
You are viewing an old version of this page that was saved on June 23, 2010 at 2:37pm by Madeleine Ball.
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
Added in this revision:
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.
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