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Variant (rsID / SNP)

rs184596437

EDARADD

rs184596437 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDARADD. Location: chromosome 1, position 236,590,679. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EDARADDConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:236590679
Cytoband
1q43
HGVS
NM_145861.4(EDARADD):c.161-13T>C
Allele change
Silent

Associated conditions / phenotypes

Hypohidrotic Ectodermal Dysplasia, Recessive|Hypohidrotic ectodermal dysplasia

Public references

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