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.
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There are 1 disease-related annotations for this variant. Register or sign in to see them.
VIP Variant in ALOX5
This is an intronic single nucleotide polymorphism (SNP) reported by Lima et al. which is positively associated with increased FEV 1 response to montelukast therapy. This SNP is also part of a 4-SNP haplotype associated with increased numbers of asthma exacerbations during 6 months of montelukast treatment relative to placebo [Article:16293801] (see Phenotype Dataset).
| Key Publications: | |
|---|---|
| Drugs / Other Molecules |
Drug (1)
|
| Diseases | Asthma 1 |
| Phenotype |
Response to montelukast treatment in asthma
2
|
| Phenotype Datasets | Outcomes in Asthmatics taking montelukast |
Publications related to rs2115819 at chr10:45901089: 1
| Influence of leukotriene pathway polymorphisms on response to montelukast in asthma. American journal of respiratory and critical care medicine. 2006. Lima John J, et al. [Article:16293801@PubMed] |
Cross-References
- UCSC Golden Path:
- chr10:45901089
- dbSNP:
- rs2115819
- ALFRED:
- SI304256U
- HapMap:
- rs2115819
Platform Availability
- Illumina