rs5936487

This variant is located in the EDA gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

odontogenesis

Pillas D et al. “Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.” Plos Genetics 6(2):e1000856 (2010)

Allele G

OR —

p 6.0e-11

N 5,919

Large GWAS

European

About EDA

The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all EDA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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