Variant (rsID / SNP)

rs146567337

rs146567337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDAR. Location: chromosome 2, position 109,513,572. Clinical significance in the table: Benign.

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Reference-table entries

EDARBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:109513572
Cytoband: 2q13
HGVS: NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg)
Allele change: Missense_S380R

Associated conditions / phenotypes

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|Hypohidrotic ectodermal dysplasia|Non-syndromic oligodontia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.