Variant (rsID / SNP)

rs367895981

rs367895981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDOST. Location: chromosome 1, position 20,982,585. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DDOSTLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:20982585
Cytoband: 1p36.12
HGVS: NM_005216.5(DDOST):c.352+9G>A
Allele change: Silent

Associated conditions / phenotypes

Congenital disorder of glycosylation type Ir

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.