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 4 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.
Publications related to rs4343 at chr17:61566031: 4
| A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor. The pharmacogenomics journal. 2010. Chung C-M, et al. [Article:20066004@PubMed] | |
| Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS). Disease markers. 2008. Abdollahi Mohammad Reza, et al. [Article:18057531@PubMed] | |
| Effects of ACE gene insertion/deletion polymorphism on response to spironolactone in patients with chronic heart failure. The American journal of medicine. 2004. Cicoira Mariantonietta, et al. [Article:15121491@PubMed] | |
| ACE gene I/D and NOS3 G894T polymorphisms and response to sildenafil in men with erectile dysfunction. Urology. 2003. Eisenhardt Andreas, et al. [Article:12837457@PubMed] |
Cross-References
- UCSC Golden Path:
- chr17:61566031
- dbSNP:
- rs4343
- ALFRED:
- SI004037O
- HapMap:
- rs4343
- JSNP:
- IMS-JST003570
Platform Availability
- Affymetrix
- Illumina