rs56337013
From SNPedia
| Clopidogrel (Plavix®) |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | carrier of one CYP2C19*5 allele | |
| (T;T) | 3 | CYP2C19*5 homozygote |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 94852738 |
| Gene | CYP2C19 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs56337013 |
| dbSNP (classic) | rs56337013 |
| ClinGen | rs56337013 |
| ebi | rs56337013 |
| HLI | rs56337013 |
| Exac | rs56337013 |
| Gnomad | rs56337013 |
| Varsome | rs56337013 |
| LitVar | rs56337013 |
| Map | rs56337013 |
| PheGenI | rs56337013 |
| Biobank | rs56337013 |
| 1000 genomes | rs56337013 |
| hgdp | rs56337013 |
| ensembl | rs56337013 |
| geneview | rs56337013 |
| scholar | rs56337013 |
| rs56337013 | |
| pharmgkb | rs56337013 |
| gwascentral | rs56337013 |
| openSNP | rs56337013 |
| 23andMe | rs56337013 |
| SNPshot | rs56337013 |
| SNPdbe | rs56337013 |
| MSV3d | rs56337013 |
| GWAS Ctlg | rs56337013 |
| Max Magnitude | 3 |
| This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
|
The rs56337013(T) allele defines the CYP2C19 variant known as CYP2C19*5.
This variant is quite rare (< 1% of Caucasians or Chinese), and leads to a poor metabolizer phenotype. [PMID 10022751]
[PMID 21247447
] CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population
| ClinVar | |
|---|---|
| Risk | Rs56337013(T;T) |
| Alt | Rs56337013(T;T) |
| Reference | Rs56337013(C;C) |
| Significance | Other |
| Disease | Mephenytoin not provided |
| Variation | info |
| Gene | CYP2C19 |
| CLNDBN | Mephenytoin, poor metabolism of not provided |
| Reversed | 0 |
| HGVS | NC_000010.10:g.96612495C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018396.28, RCV000348667.1, |
