Gene entry
EDARADD
EDAR associated via death domain
- Chromosome
- 1
- Cytoband
- 1q42.3-q43
- Variants (rsID)
- 31
EDARADD is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q42.3-q43). Its official name is “EDAR associated via death domain”. The reference table lists 31 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs114632254Benignsingle nucleotide variantEctodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive|Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant|Hypohidrotic ectodermal dysplasia
- rs604070Benignsingle nucleotide variantHypohidrotic Ectodermal Dysplasia, Recessive|Hypohidrotic ectodermal dysplasia|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive|Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- rs61736989Benignsingle nucleotide variantHypohidrotic Ectodermal Dysplasia, Recessive|Hypohidrotic ectodermal dysplasia
- rs184596437Conflicting interpretationssingle nucleotide variantHypohidrotic Ectodermal Dysplasia, Recessive|Hypohidrotic ectodermal dysplasia
- rs121908116Pathogenicsingle nucleotide variantEctodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
- rs74315309Pathogenicsingle nucleotide variantEctodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
