rs28399504
| Clopidogrel (Plavix®) |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;G) | 2 | carrier of a CYP2C19*4 allele, considered a "slow metabolizer" variant |
| (G;G) | 2.5 | poor metabolizer |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 94762706 |
| Gene | CYP2C19 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28399504 |
| dbSNP (classic) | rs28399504 |
| ClinGen | rs28399504 |
| ebi | rs28399504 |
| HLI | rs28399504 |
| Exac | rs28399504 |
| Gnomad | rs28399504 |
| Varsome | rs28399504 |
| LitVar | rs28399504 |
| Map | rs28399504 |
| PheGenI | rs28399504 |
| Biobank | rs28399504 |
| 1000 genomes | rs28399504 |
| hgdp | rs28399504 |
| ensembl | rs28399504 |
| geneview | rs28399504 |
| scholar | rs28399504 |
| rs28399504 | |
| pharmgkb | rs28399504 |
| gwascentral | rs28399504 |
| openSNP | rs28399504 |
| 23andMe | rs28399504 |
| SNPshot | rs28399504 |
| SNPdbe | rs28399504 |
| MSV3d | rs28399504 |
| GWAS Ctlg | rs28399504 |
| GMAF | 0.001377 |
| Max Magnitude | 2.5 |
| This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
|
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs28399504 is a SNP in the CYP2C19 gene, potentially encoding the CYP2C19*4 variant. This variant has been linked to poor metabolism of compounds like mephenytoin. It is also known as M1V or Met1Val.[PMID 9435198]
The risk allele is rs28399504(G).
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).
According to a 23andMe discussion This is one of the SNPs which were re-analyzed April 2009. Customers with older data may wish to redownload. SNPs effected rs4420638, rs34276300, rs3091244, rs34601266, rs2033003, rs7900194, rs9332239, rs28371685, rs1229984, and rs28399504.
[PMID 21247447
] CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population
| ClinVar | |
|---|---|
| Risk | Rs28399504(G;G) rs28399504(T;T) |
| Alt | Rs28399504(G;G) rs28399504(T;T) |
| Reference | Rs28399504(A;A) |
| Significance | Other |
| Disease | Mephenytoin clopidogrel response - Efficacy not provided |
| Variation | info |
| Gene | CYP2C19 |
| CLNDBN | Mephenytoin, poor metabolism of clopidogrel response - Efficacy not provided |
| Reversed | 0 |
| HGVS | NC_000010.10:g.96522463A>G |
| CLNSRC | OMIM Allelic Variant PharmGKB Clinical Annotation |
| CLNACC | RCV000018399.28, RCV000211166.1, RCV000383294.1, |
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[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.
