Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs367619008

DPYD

rs367619008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPYD. Location: chromosome 1, position 98,293,716. Clinical significance in the table: Conflicting interpretations of pathogenicity.

Reference-table entries

DPYDConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:98293716
Cytoband
1p21.3
HGVS
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu)
Allele change
Missense_K63E

Associated conditions / phenotypes

Dihydropyrimidine dehydrogenase deficiency

Public references

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