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Variant (rsID / SNP)

rs3918289

DPYD

rs3918289 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPYD. Location: chromosome 1, position 97,915,615. 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
1:97915615
Cytoband
1p21.3
HGVS
NM_000110.4(DPYD):c.1905C>T (p.Asn635=)
Allele change
Synonymous_N635N

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.