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 5 annotations for this variant. Register or sign in to see them.
VIP Variant in VKORC1
Note: The VKORC1 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 and haplotypes may differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.
G9041A, or 3730 G>A, is a SNP in the 3'UTR of VKORC1, and it may be associated with a higher warfarin dose [Articles:15358623, 16676068]. It is generally not found in the same haplotypes as G3673A or C6484T. Below is a table of the frequency of the A allele at postion 9041 in different populations, and also the number of patients in the study and the PMID number for the study.
| Population | N | Allele Frequency of "A" | PMID |
|---|---|---|---|
| Japanese | 93 | 8% | [Article:17049586] |
| Swedish | 38 | 38% | [Article:17048007] |
| Japanese | 9 | 9% | [Article:17031720] |
| Swedish (anticoagulated) | 39 | 39% | [Article:16879214] |
| Swedish (healthy) | 37 | 37% | [Article:16879214] |
| Slovenian | 36 | 36% | [Article:16676068] |
| Caucasian (anticoagulated) | 36 | 36 | [Article:16611750] |
| Florida VA hospital | 39 | 39% | [Article:16580898] |
| African Americans | 52 | 52% | [Article:16424822] |
| Caucasians | 37 | 37% | [Article:16424822] |
| Japanese | 17 | 17% | [Article:16424822] |
| Germans | 38 | 38% | [Article:16270629] |
| Swedish | 39 | 39% | [Article:15883587] |
| Italian | 35 | 35% | [Article:15358623] |
| Japanese | 9 | 9% | [Article:16432637] |
| Key Publications: | |
|---|---|
| Drugs / Other Molecules |
Drug (3)
|
| Diseases | Atrial Fibrillation Coagulation Protein Disorders Hemorrhage Vascular Diseases |
| Phenotype Datasets | WUSTL warfarin dosing data, group A |
Appendix
| gp position | chr16:31009822(hg18) |
|---|
Connected Diseases
| Evidence | Disease |
|---|---|
| Atrial Fibrillation | |
| Coagulation Protein Disorders | |
| Hemorrhage | |
| Vascular Diseases |
Publications related to rs7294 at chr16:31102321: 12
Cross-References
- UCSC Golden Path:
- chr16:31102321
- dbSNP:
- rs7294
- ALFRED:
- SI549694L
- HapMap:
- rs7294
- Seattle SNP:
- VKORC1-009041
Platform Availability
- Affymetrix
- Illumina