rs4986893
| Clopidogrel (Plavix®) |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2.1 | poor metabolizer of several commonly prescribed drugs |
| (A;G) | 2 | carrier of a CYP2C19*3 allele, a "slow metabolizer" allele |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 94780653 |
| Gene | CYP2C19 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4986893 |
| dbSNP (classic) | rs4986893 |
| ClinGen | rs4986893 |
| ebi | rs4986893 |
| HLI | rs4986893 |
| Exac | rs4986893 |
| Gnomad | rs4986893 |
| Varsome | rs4986893 |
| LitVar | rs4986893 |
| Map | rs4986893 |
| PheGenI | rs4986893 |
| Biobank | rs4986893 |
| 1000 genomes | rs4986893 |
| hgdp | rs4986893 |
| ensembl | rs4986893 |
| geneview | rs4986893 |
| scholar | rs4986893 |
| rs4986893 | |
| pharmgkb | rs4986893 |
| gwascentral | rs4986893 |
| openSNP | rs4986893 |
| 23andMe | rs4986893 |
| SNPshot | rs4986893 |
| SNPdbe | rs4986893 |
| MSV3d | rs4986893 |
| GWAS Ctlg | rs4986893 |
| Merged from | Rs57081121 |
| GMAF | 0.01423 |
| Max Magnitude | 2.1 |
| This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
|
rs4986893 is a SNP in the CYP2C19 gene, potentially encoding the CYP2C19*3 variant. This variant has been linked to poor metabolism of compounds like mephenytoin as well as proguanil, and it therefore has implications for malaria prophylaxis. [PMID 7969038, PMID 9093256]
The risk allele is rs4986893(A).
As a nonfunctioning CYP2C19, this variant would be expected to be a poor metabolizer of several commonly prescribed drugs, including anti-ulcer drugs like omeprazole (trade names Losec and Prilosec), esomeprazole (trade name Nexium), and lansoprazole (Prevacid).
[PMID 21247447
] CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population
| ClinVar | |
|---|---|
| Risk | Rs4986893(A;A) |
| Alt | Rs4986893(A;A) |
| Reference | Rs4986893(G;G) |
| Significance | Other |
| Disease | Mephenytoin Proguanil clopidogrel response - Efficacy not provided |
| Variation | info |
| Gene | CYP2C19 |
| CLNDBN | Mephenytoin, poor metabolism of Proguanil, poor metabolism of clopidogrel response - Efficacy, Toxicity/ADR not provided |
| Reversed | 0 |
| HGVS | NC_000010.10:g.96540410G>A |
| CLNSRC | OMIM Allelic Variant PharmGKB Clinical Annotation |
| CLNACC | RCV000018397.27, RCV000018398.27, RCV000211151.1, RCV000291495.1, |
[PMID 18521743] CYP2C19*17 is associated with decreased breast cancer risk.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 18974781] Cataloging coding sequence variations in human genome databases.
[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 22265638] The impact of genetic polymorphisms of P2Y12, CYP3A5 and CYP2C19 on clopidogrel response variability in Iranian patients.
[PMID 23517020] Influence of CYP2C19*2 and *3 loss-of-function alleles on pharmacodynamic effects of standard- and high-dose clopidogrel in East Asians undergoing percutaneous coronary intervention: the results of the ACCEL-DOUBLE-2N3 study
[PMID 23661171] CYP2C19 genotypes and their impact on clopidogrel responsiveness in percutaneous coronary intervention
[PMID 23645039] High prevalence of CYP2C19*2 allele in Roma samples: study on Roma and Hungarian population samples with review of the literature
[PMID 23130019] Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.
[PMID 23133420] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
