Variant (rsID / SNP)

rs121908454

rs121908454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDAR. Location: chromosome 2, position 109,513,586. Clinical significance in the table: Pathogenic.

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Reference-table entries

EDARPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:109513586
Cytoband: 2q13
HGVS: NM_022336.4(EDAR):c.1124G>A (p.Arg375His)
Allele change: Missense_R375H

Associated conditions / phenotypes

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

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.