Variant (rsID / SNP)
rs260632
rs260632 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDAR. Location: chromosome 2, position 109,526,969. Clinical significance in the table: Benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:109526969
- Cytoband
- 2q13
- HGVS
- NM_022336.4(EDAR):c.750C>T (p.Ser250=)
- Allele change
- Synonymous_S250S
Associated conditions / phenotypes
Hypohidrotic Ectodermal Dysplasia, Dominant|Hypohidrotic ectodermal dysplasia|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|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.