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 2 annotations for this variant. Register or sign in to see them.
VIP Variant in KCNH2
Note: The KCNH2 gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand; therefore the alleles within our variant annotations will differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.
Variant in intron region is associated with prolongation of QT interval.
| Key Publications: | |
|---|---|
| Diseases | Long QT Syndrome |
Appendix
| Genomic Variant & GenBank ID: | 11220410 C>T on NT_007914.14 (from dbSNP) |
|---|---|
| DNA Source Containing *Homozygous Reference* *Allele(Coriell Lines):* | CC PA12670657 (GM17453) |
| DNA Source Containing * Heterozygous* *Reference* * Allele(Coriell Lines):* | CT PA12670644 (GM17439) |
| DNA Source Containing * Homozygous Minor* *Allele(Coriell Lines):* | TT PA12670648 (GM17443) |
Publications related to rs3815459 at chr7:150644394: 2
| Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects. European journal of human genetics : EJHG. 2007. Gouas L, et al. [Article:17534376@PubMed] | |
| Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study. Circulation research. 2005. Pfeufer Arne, et al. [Article:15746444@PubMed] |
Cross-References
- UCSC Golden Path:
- chr7:150644394
- dbSNP:
- rs3815459
- HapMap:
- rs3815459
- JSNP:
- IMS-JST175818