Rs28371725
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs28371725 |
| nextbio | rs28371725 |
| hapmap | rs28371725 |
| 1000 genomes | rs28371725 |
| hgdp | rs28371725 |
| ensembl | rs28371725 |
| gopubmed | rs28371725 |
| scholar | rs28371725 |
| rs28371725 | |
| pharmgkb | rs28371725 |
| gwascentral | rs28371725 |
| openSNP | rs28371725 |
| 23andMe | rs28371725 |
| 23andMe all | rs28371725 |
| SNP Nexus | |
| SNPshot | rs28371725 |
| SNPdbe | rs28371725 |
| MSV3d | rs28371725 |
| Gene | CYP2D6 |
| Chromosome | 22 |
| Orientation | minus |
| Position | 42523805 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | CYP2D6*41 homozygote | |
| (A;G) | carrier of one CYP2D6*41 allele | |
| (G;G) | 0 | normal |
The rs28371725(A) allele defines the CYP2D6*41 variant, which has decreased activity.
23andMe also has SNP i4001476 at the same position.
| PharmGKB | PA162372821 |
| Name | CYP2D6:2988G>A, part of CYP2D6*41 |
| Annotation | This variant is part of the CYP2D6*41 IM haplotype. Plasma concentrations of metoprolol were shown to be were 4.9-fold higher in the PMs, with greater reductions in heart rate, diastolic blood pressure, and mean arterial pressure in PMs than in non-PMs. |
| Gene | CYP2D6 |
| Featue | Intron |
| Evidence | PubMed ID:19037197; Web Resource:http://preview.pharmgkb.org/search/annotatedGene/cyp2d6/variant.jsp |
| Drugs | metoprolol |
| Diseases | |
| Curation Level | Curated |
| PharmGKB | PA161145193 |
| Name | CYP2D6*41, CYP2D6:2988G>A |
| Annotation | This intronic polymorphism causes a splicing defect resulting in an activity reduction. This variant is diagnostic of the haplotype CYP2D6*41. |
| Gene | CYP2D6 |
| Featue | Intron |
| Evidence | Web Resource:http://www.pharmgkb.org/search/annotatedGene/cyp2d6/variant.jsp#ImportantVariantInformationforCYP2D6-999 |
| Drugs | |
| Diseases | |
| Curation Level | In-Depth |
[PMID 22448283] Genotyping Performance between Saliva and Blood-Derived Genomic DNAs on the DMET Array: A Comparison
