NG_011564.1:g.296C>T AND warfarin response - Dosage

Clinical significance:drug response (Last evaluated: Dec 11, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211249.1

Allele description [Variation Report for NG_011564.1:g.296C>T]

NG_011564.1:g.296C>T

Gene:
VKORC1:vitamin K epoxide reductase complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NG_011564.1:g.296C>T
HGVS:
  • NC_000016.10:g.31099660G>A
  • NG_011564.1:g.296C>T
  • NC_000016.9:g.31110981G>A
Links:
PharmGKB Clinical Annotation: 1184986386; dbSNP: rs7196161
NCBI 1000 Genomes Browser:
rs7196161

Condition(s)

Name:
warfarin response - Dosage
Identifiers:
MedGen: CN236549

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268383PharmGKBreviewed by expert panel
drug response
(Dec 11, 2017)
Condition: warfarin response - Dosage
germlinecuration

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Translational aspects of genetic factors in the prediction of drug response variability: a case study of warfarin pharmacogenomics in a multi-ethnic cohort from Asia.

Chan SL, Suo C, Lee SC, Goh BC, Chia KS, Teo YY.

Pharmacogenomics J. 2012 Aug;12(4):312-8. doi: 10.1038/tpj.2011.7. Epub 2011 Mar 8.

PubMed [citation]
PMID:
21383771

Effect of CYP2C9, VKORC1, CYP4F2 and GGCX genetic variants on warfarin maintenance dose and explicating a new pharmacogenetic algorithm in South Indian population.

Krishna Kumar D, Shewade DG, Loriot MA, Beaune P, Balachander J, Sai Chandran BV, Adithan C.

Eur J Clin Pharmacol. 2014 Jan;70(1):47-56. doi: 10.1007/s00228-013-1581-x. Epub 2013 Sep 10.

PubMed [citation]
PMID:
24019055
See all PubMed Citations (4)

Details of each submission

From PharmGKB, SCV000268383.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (4)

Description

PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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