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rs12248560

From SNPedia

Clopidogrel (Plavix®)
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 2 CYP2C19*17 ultra fast metabolizer; drug metabolism effects; also 0.77x decreased breast cancer risk
(T;T) 2 CYP2C19*17 ultra fast metabolizer; drug metabolism effects; also 0.77x decreased breast cancer risk
ReferenceGRCh38 38.1/142
Chromosome10
Position94761900
GeneCYP2C19
is asnp
is mentioned by
dbSNPrs12248560
ebirs12248560
HLIrs12248560
Exacrs12248560
Varsomers12248560
Maprs12248560
PheGenIrs12248560
hapmaprs12248560
1000 genomesrs12248560
hgdprs12248560
ensemblrs12248560
gopubmedrs12248560
geneviewrs12248560
scholarrs12248560
googlers12248560
pharmgkbrs12248560
gwascentralrs12248560
openSNPrs12248560
23andMers12248560
23andMe allrs12248560
SNP Nexus

SNPshotrs12248560
SNPdbers12248560
MSV3drs12248560
GWAS Ctlgrs12248560
GMAF0.1524
Max Magnitude2
? (C;C) (C;T) (T;T) 28
CPMC Logo.png

This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
Additional information is available here

rs12248560(T) defines the CYP2C19*17 allele, an ultra fast metabolizer phenotype of the CYP2C19 gene.

CYP2C19*17 is likely to lead to less effective drug treatment by, for example, proton pump inhibitors (such as omeprazole) and antidepressants.[PMID 16413245]

On the other hand, cancer patients who are CYP2C19*17 carriers are more likely to benefit from tamoxifen treatment, presumably because they break it down more rapidly into the antiestrogenic metabolites endoxifen and 4-hydroxytamoxifen.[PMID 18024866]

A study of 1,000+ breast cancer patients showed a 0.77x decreased risk of breast cancer for carriers of a CYP2C19*17 allele (CI: 0.65-0.93, p = 0.005). Analysis of a subgroup of such carriers who were using hormone therapy for ten years or longer showed an even stronger effect (odds ratio 0.57, CI: 0.39-0.83, p = 0.003). The theory is that ultra fast metabolism of estrogen leads to lower estrogen levels and lower breast cancer risk.[PMID 18521743]

Neighborrs28399504
Distance806
[PMID 21247447OA-icon.png] CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population


[PMID 17048007OA-icon.png] Association of warfarin dose with genes involved in its action and metabolism.


[PMID 19136640OA-icon.png] Rapid identification of the hepatic cytochrome P450 2C19 activity using a novel and noninvasive [13C]pantoprazole breath test.


[PMID 21071160] Analysis of 50 SNPs in CYP2D6, CYP2C19, CYP2C9, CYP3A4 and CYP1A2 by MALDI-TOF mass spectrometry in Chinese Han population.


[PMID 21172166OA-icon.png] Pharmacogenetics of antidepressant response.


GET Evidence
rs12248560
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.195312
summary



Clopidogrel Efficacy


[PMID 24380239] Characterization of the most common CYP2C9 and CYP2C19 allelic variants in the population from the Republic of Macedonia


[PMID 23133420OA-icon.png] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.


[PMID 24519754] CYP2C19 genotype-phenotype discordance in patients with multiple myeloma leads to an acquired loss of drug-metabolising activity


ClinVar
Risk rs12248560(A,T;A,T)
Alt rs12248560(A,T;A,T)
Reference rs12248560(C;C)
Significance Drug-response
Disease clopidogrel response - Dosage citalopram response - Metabolism/PK escitalopram response - Metabolism/PK
Variation info
Gene CYP2C19
CLNDBN clopidogrel response - Dosage, Efficacy, Toxicity/ADR citalopram response - Metabolism/PK escitalopram response - Metabolism/PK
Reversed 0
HGVS NC_000010.10:g.96521657C>A
CLNSRC PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000211201.1, RCV000211253.1, RCV000211375.1,