Clinical Annotations
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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 5 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 GSTP1
The GSTP1 A114V polymorphism is less well studied and its pharmacogenetic significance is unclear. The variant allele is almost always found in linkage disequilibrium with GSTP1 I105V (combination sometimes labeled GSTP1*C). However, the GSTP1 A114V polymorphism occurs at a lower frequency, and does not appear to alter enzyme activity [Article:9498276].
Frequency of the GSTP1 A114V polymorphism ranges from 5% in African Americans to 9% in European Americans [Article:9498276].
| Key Publications: | |
|---|---|
| Drugs / Other Molecules |
Drug (6)
|
| Phenotype Datasets |
Pharmacogenetic Risk Factors for Osteonecrosis of the Hip Among Children With Leukemia Pharmacokinetics of etoposide, catechol metabolite RNA expression in metabolite and transport genes |
Appendix
| Genomic Variant & GenBank ID: | 3517C>T on M24485 |
|---|---|
| mRNA Variant & GenBank ID: | 370C>T on NM_000852 |
| Protein Variant & GenBank ID: | A114V on NP_000843 |
Connected Drugs
| Evidence | Drug |
|---|---|
| cisplatin | |
| cyclophosphamide | |
| doxorubicin | |
| etoposide | |
| oxaliplatin | |
| pyrimethamine | |
| thiotepa |
Connected Drug Classes
| Evidence | Drug Class |
|---|---|
| Variant Annotation | Platinum compounds |
Connected Diseases
Publications related to rs1138272 at chr11:67353579: 5
Cross-References
- UCSC Golden Path:
- chr11:67353579
- dbSNP:
- rs1138272
- ALFRED:
- SI273117V
- HapMap:
- rs1138272
- LS-SNP:
- rs1138272
Platform Availability
- Illumina