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Gene entry

EDAR

ectodysplasin A receptor

Chromosome
2
Cytoband
2q13
Variants (rsID)
31

EDAR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q13). Its official name is “ectodysplasin A receptor”. The reference table lists 31 variants (rsID) for this gene.

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Clinically classified variants

12 reference-table entries with clinical significance.

  • rs12623957Benignsingle nucleotide variantHypohidrotic Ectodermal Dysplasia, Dominant|Hypohidrotic ectodermal dysplasia|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • rs13001699Benignsingle nucleotide variantHypohidrotic Ectodermal Dysplasia, Dominant|Hypohidrotic ectodermal dysplasia
  • rs146567337Benignsingle nucleotide variantEctodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|Hypohidrotic ectodermal dysplasia|Non-syndromic oligodontia
  • rs260632Benignsingle nucleotide variantHypohidrotic Ectodermal Dysplasia, Dominant|Hypohidrotic ectodermal dysplasia|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • rs3749096Benignsingle nucleotide variantHypohidrotic Ectodermal Dysplasia, Dominant|Hypohidrotic ectodermal dysplasia
  • rs3827760Benignsingle nucleotide variantHair morphology 1, hair thickness|Hypohidrotic Ectodermal Dysplasia, Dominant|Hypohidrotic ectodermal dysplasia|Non-syndromic oligodontia|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • rs3833574BenignDeletionEctodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
  • rs121908450Pathogenicsingle nucleotide variantEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
  • rs121908452Pathogenicsingle nucleotide variantEctodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Non-syndromic oligodontia
  • rs121908453Pathogenicsingle nucleotide variantEctodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
  • rs121908454Pathogenicsingle nucleotide variantEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • rs121908451Uncertain significancesingle nucleotide variantEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

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.