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 8 annotations for this variant. Register or sign in to see them.
There are 2 disease-related annotations for this variant. Register or sign in to see them.
VIP Variant in SLCO1B1
Several studies suggest that the OATP1B1:N130D protein had increased transporter function but these reports have been inconsistent [Articles:18499754, 11477075, 12130747, 15970799, 15564882, 15608127].
SLCO1B1:A388G (rs2306283) was associated with decreased repaglinide plasma AUC and reduced efficacy [Article:18187595]. No association was observed between these variants and pharmacokinetic handling of a second meglitinide family member, nateglinide [Article:18187595].
Population FrequenciesThe genotypic frequencies for the SNPs and variants identified appear to be dependent on ethnicity. Summary given in Table 3 below.
Table 3. Population frequencies of SLCO1B1 variants
| Common name | rsID | Protein change | Haplotype | African-American [Article:11477075], [Article:18185926] | Japanese [Article:12130747] | Asian (includes Japanese) [Articles:12811365, 19122343]] | Caucasian [Articles:11477075, 18781850, 18185926, 16758257] |
| T521C | rs4149056 | Val174Ala | *5 | 1%-4% | 0.7% | 6%-19% | 12% \-20% |
| G388A | rs2306283 | Asn130Asp | *1b | 74%-78% | 54% | 56%-81% | 37%-46% |
| T521C + G388A | Val174Ala + Asn130Asp | *15 | 10% |
| Key Publications: | |
|---|---|
| Drugs / Other Molecules |
Drug (19)
|
Appendix
1. SLC01B1:N130D commonly known as A388G
| Genomic Variant & GenBank ID: | 14,088,712 A>G on NT_009714 |
|---|---|
| mRNA Variant & GenBank ID: | 492A>G on NM_006446.4 |
| Protein Variant & GenBank ID: | 130 N>D on NP_006437.3 |
| GoldenPath Position: | Chr12: 21,221,005 (hg18) |
Connected Drugs
Connected Drug Classes
| Evidence | Drug Class |
|---|---|
| VIP Annotation | Arsenic compounds |
| Variant Annotation | hmg coa reductase inhibitors |
Connected Diseases
Publications related to rs2306283 at chr12:21329738: 13
Cross-References
- UCSC Golden Path:
- chr12:21329738
- dbSNP:
- rs2306283
- ALFRED:
- SI325707Y
- HapMap:
- rs2306283
- JSNP:
- ssj0003168
Platform Availability
- Illumina