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 1 annotations for this variant. Register or sign in to see them.
VIP Variant in CYP3A4
VIP processing, will be available soon
Appendix
| Genomic Variant & GenBank ID: | 84,062 C>T on AF280107 |
|---|---|
| mRNA Variant & GenBank ID: | 1351 C>T on NM_017460 |
| Protein Variant & GenBank ID: | 416 Pro>Leu on NP_059488 |
| Key Haplotypes: | CYP3A4*13 |
Publications related to rs4986909 at chr7:99359670: 1
| Identification and functional characterization of eight CYP3A4 protein variants. Pharmacogenetics. 2001. Eiselt R, et al. [Article:11470997@PubMed] |
Cross-References
- UCSC Golden Path:
- chr7:99359670
- dbSNP:
- rs4986909
- HapMap:
- rs4986909
- LS-SNP:
- rs4986909
Platform Availability
- Illumina