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Variant (rsID / SNP)

rs121908451

EDAR

rs121908451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDAR. Location: chromosome 2, position 109,545,751. Clinical significance in the table: Uncertain significance.

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Reference-table entries

EDARUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
2:109545751
Cytoband
2q13
HGVS
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg)
Allele change
Missense_C87R

Associated conditions / phenotypes

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

Public references

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