Variant: rs74315309 

    present in Gene: EDARADD
    present in Chromosome: 1
    Position on Chromosome: 236482455
    Alleles of this Variant: G/A

rs74315309 in EDARADD gene and ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE PMID 20222921 2010 Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.

PMID 11780064 2002 Gene defect in ectodermal dysplasia implicates a death domain adapter in development.

PMID 17354266 2007 Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.