Variant (rsID / SNP)
rs61739382
rs61739382 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDOST. Location: chromosome 1, position 20,987,855. Clinical significance in the table: Benign.
Reference-table entries
DDOSTBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:20987855
- Cytoband
- 1p36.12
- HGVS
- NM_005216.5(DDOST):c.-12A>C
- Allele change
- Synonymous_R14R
Associated conditions / phenotypes
Congenital disorder of glycosylation type Ir
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.