Variant (rsID / SNP)

rs13001699

rs13001699 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDAR. Location: chromosome 2, position 109,512,234. 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: 2:109512234
Cytoband: 2q13
HGVS: NM_022336.4(EDAR):c.*1129A>G
Allele change: Silent

Associated conditions / phenotypes

Hypohidrotic Ectodermal Dysplasia, Dominant|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.