rs12248560
| Clopidogrel (Plavix®) |
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 94761900 |
| Gene | CYP2C19 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12248560 |
| dbSNP (classic) | rs12248560 |
| ClinGen | rs12248560 |
| ebi | rs12248560 |
| HLI | rs12248560 |
| Exac | rs12248560 |
| Gnomad | rs12248560 |
| Varsome | rs12248560 |
| LitVar | rs12248560 |
| Map | rs12248560 |
| PheGenI | rs12248560 |
| Biobank | rs12248560 |
| 1000 genomes | rs12248560 |
| hgdp | rs12248560 |
| ensembl | rs12248560 |
| geneview | rs12248560 |
| scholar | rs12248560 |
| rs12248560 | |
| pharmgkb | rs12248560 |
| gwascentral | rs12248560 |
| openSNP | rs12248560 |
| 23andMe | rs12248560 |
| SNPshot | rs12248560 |
| SNPdbe | rs12248560 |
| MSV3d | rs12248560 |
| GWAS Ctlg | rs12248560 |
| GMAF | 0.1524 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
|
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]
[PMID 21247447
] CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population
[PMID 17048007] Association of warfarin dose with genes involved in its action and metabolism.
[PMID 19136640] 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 21172166] Pharmacogenetics of antidepressant response.
[PMID 24380239] Characterization of the most common CYP2C9 and CYP2C19 allelic variants in the population from the Republic of Macedonia
[PMID 23133420] 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;A) Rs12248560(T;T) |
| Alt | rs12248560(A;A) Rs12248560(T;T) |
| Reference | Rs12248560(C;C) |
| Significance | Other |
| Disease | clopidogrel response - Dosage citalopram response - Metabolism/PK escitalopram response - Metabolism/PK not provided |
| Variation | info |
| Gene | CYP2C19 |
| CLNDBN | clopidogrel response - Dosage, Efficacy, Toxicity/ADR citalopram response - Metabolism/PK escitalopram response - Metabolism/PK not provided |
| Reversed | 0 |
| HGVS | NC_000010.10:g.96521657C>A; NC_000010.10:g.96521657C>T |
| CLNSRC | PharmGKB Clinical Annotation |
| CLNACC | RCV000211201.1, RCV000211253.1, RCV000211375.1, RCV000326411.1, |
[PMID 31441095] Development and validation of T-ARMS-PCR to detect CYP2C19*17 allele.
