Variant (rsID / SNP)

rs61736989

rs61736989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDARADD. Location: chromosome 1, position 236,647,542. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EDARADDBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:236647542
Cytoband: 1q43
HGVS: NM_145861.4(EDARADD):c.*1593G>T
Allele change: Silent

Associated conditions / phenotypes

Hypohidrotic Ectodermal Dysplasia, Recessive|Hypohidrotic ectodermal dysplasia

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.