Variant:
rs1801158 at chr1:97981421 in DPYD

Alleles (on + chromosomal strand)
C > T
Amino Acid Translation
Ser534Asn
Alternate Names:
c.1601G>A, g.410195G>A, g.67953339C>T, p.Ser534Asn
Haplotypes
This variant is used to determine: DPYD*4

Variant Annotations

PharmGKB variant annotations provide information about variant-drug pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.

Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.

There are 3 annotations for this variant. Register or sign in to see them.

Connected Drugs

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
fluorouracil
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
leucovorin

Connected Diseases

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Drug Toxicity
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Neoplasms

Publications related to rs1801158 at chr1:97981421: 3

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Multiple organ failure due to 5-fluorouracil chemotherapy in a patient with a rare dihydropyrimidine dehydrogenase gene variant. Onkologie. 2004. Lazar A, et al. [Article:15591715@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects. Human mutation. 2003. Gross Eva, et al. [Article:14635116@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Known variant DPYD alleles do not explain DPD deficiency in cancer patients. Pharmacogenetics. 2000. Collie-Duguid E S, et al. [Article:10803677@PubMed]

Cross-References

UCSC Golden Path:
chr1:97981421
dbSNP:
rs1801158

Common Searches

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