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 3 annotations for this variant. Register or sign in to see them.
VIP Variant in CYP3A4
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Appendix
| Genomic Variant & GenBank ID: | 77,639 C>G on AF280107 |
|---|---|
| mRNA Variant & GenBank ID: | 658 C>G on NM_017460 |
| Protein Variant & GenBank ID: | 185 Thr>Ser on NP_059488 |
| Key Haplotypes: | CYP3A4*16A,CYP3A4*16 |
Publications related to rs12721627 at chr7:99366093: 3
| Functional characterization of CYP3A4.16: catalytic activities toward midazolam and carbamazepine. Xenobiotica; the fate of foreign compounds in biological systems. 2009. Maekawa K, et al. [Article:19255940@PubMed] | |
| Impact of the haplotype CYP3A4*16B harboring the Thr185Ser substitution on paclitaxel metabolism in Japanese patients with cancer. Clinical pharmacology and therapeutics. 2006. Nakajima Yukiko, et al. [Article:16890579@PubMed] | |
| Common allelic variants of cytochrome P4503A4 and their prevalence in different populations. Pharmacogenetics. 2002. Lamba Jatinder K, et al. [Article:11875366@PubMed] |
Cross-References
- UCSC Golden Path:
- chr7:99366093
- dbSNP:
- rs12721627
- LS-SNP:
- rs12721627