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 19 annotations for this variant. Register or sign in to see them.
There are 1 disease-related annotations for this variant. Register or sign in to see them.
VIP Variant in DPYD
Note: The DPYD gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand; therefore the alleles within our variant annotations will differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.
Commonly referred to as *2A (McLeod et al. 1999) [Article:9918128]. Variant frequencies are <0.001-0.03 in major global populations. Patients with the variant allele have a significantly greater chance of developing toxicity related to 5-fluorouracil treatment (Van Kuilenberg et al. 1999) [Article:10071185].
| Key Publications: | |
|---|---|
| Drugs / Other Molecules |
Drug (1)
|
Appendix
| Genomic Variant & GenBank ID: | 67887533 G>A on NT_032977 |
|---|
Connected Drugs
| Evidence | Drug |
|---|---|
| bevacizumab | |
| capecitabine | |
| cetuximab | |
| fluorouracil | |
| leucovorin | |
| oxaliplatin | |
| raltitrexed | |
| tegafur |
Connected Drug Classes
| Evidence | Drug Class |
|---|---|
| Variant Annotation | Pyrimidine analogues |
Connected Diseases
Publications related to rs3918290 at chr1:97915614: 18
Cross-References
- UCSC Golden Path:
- chr1:97915614
- dbSNP:
- rs3918290
- ALFRED:
- SI018626X
- HapMap:
- rs3918290
Platform Availability
- Illumina