Rs4986893
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs4986893 |
| hapmap | rs4986893 |
| hgdp | rs4986893 |
| ensembl | rs4986893 |
| gopubmed | rs4986893 |
| scholar | rs4986893 |
| rs4986893 | |
| pharmgkb | rs4986893 |
| hgvbaseg2p | rs4986893 |
| medrefsnp | rs4986893 |
| 23andMe | rs4986893 |
| SNP Nexus |
| Gene | CYP2C19 |
| Chromosome | 10 |
| Orientation | plus |
| Position | 96530399 |
| Genotype | Effect |
|---|---|
| rs4986893(A;A) | poor metabolizer of several commonly prescribed drugs |
| rs4986893(A;G) | carrier of one CYP2C19*3 allele |
| rs4986893(G;G) | normal |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs4986893(A;A) | 2.12.1 | poor metabolizer of several commonly prescribed drugs |
| Rs4986893(A;G) | 22 | carrier |
| Rs4986893(G;G) | 00 | normal |
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).
- see omim 124020.0003
| ? | (A;A) (A;G) (G;G) |
|---|---|
|
| |
| PharmGKB | PA161145196 |
| Name | CYP2C19:636G>A |
| Annotation | This variant results in a premature termination codon in cDNA; defining variant for CYP2C19*3. |
| Gene | CYP2C19 |
| Featue | Exon/NonSyn |
| Evidence | Web Resource:http://www.pharmgkb.org/search/annotatedGene/cyp2c19/haplotype.jsp#ImportantHaplotypeInformationforCYP2C19-3; Web Resource:http://www.pharmgkb.org/search/annotatedGene/cyp2c19/variant.jsp#ImportantVariantInformationforCYP2C19-636 |
| Drugs | |
| Diseases | |
| Curation Level | In-Depth |
