Variant:
rs2229109 at chr7:87179809 in ABCB1

Alleles (on + chromosomal strand)
C > T
C > A
Amino Acid Translation
Ser400Asn
Ser400Ile
Alternate Names:
ABCB1: c.1199G>A, c.1199G>A, c.1199G>C, c.1199G>T, g.167756G>A, g.167756G>C, g.167756G>T, g.25212652C>A, g.25212652C>G, g.25212652C>T, mRNA 1617G>A, p.Ser400Asn, p.Ser400Ile, p.Ser400Thr

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 11 annotations for this variant. Register or sign in to see them.

Connected Drugs

Connected Diseases

Publications related to rs2229109 at chr7:87179809: 3

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Association of ABCB1 polymorphisms with survival and in vitro cytotoxicty in de novo acute myeloid leukemia with normal karyotype. The pharmacogenomics journal. 2010. Gréen H, et al. [Article:20938465@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Influence of ABCB1 genetic polymorphisms on cyclosporine intracellular concentration in transplant recipients. Pharmacogenetics and genomics. 2008. Crettol Séverine, et al. [Article:18334915@PubMed]
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Functional characterization of coding polymorphisms in the human MDR1 gene using a vaccinia virus expression system. Molecular pharmacology. 2002. Kimchi-Sarfaty Chava, et al. [Article:12065748@PubMed]

Cross-References

UCSC Golden Path:
chr7:87179809
dbSNP:
rs2229109
HapMap:
rs2229109

Platform Availability

  • Affymetrix
  • Illumina

Common Searches

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