Variant (rsID / SNP)

rs72549303

rs72549303 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPYD. Location: chromosome 1, position 97,915,622. Clinical significance in the table: drug response.

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Reference-table entries

DPYDDrug response

Clinical significance (as recorded): drug response
Variant type: Deletion
Chromosome / position: 1:97915622
Cytoband: 1p21.3
HGVS: NM_000110.4(DPYD):c.1898del (p.Pro633fs)

Associated conditions / phenotypes

fluorouracil response - Other|Dihydropyrimidine dehydrogenase deficiency

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.