rs28371686
From SNPedia
| Warfarin (Coumadin®) |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;G) | carrier of one CYP2C9*5 allele | |
| (G;G) | 2.5 | CYP2C9*5 homozygote |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 94981301 |
| Gene | CYP2C9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28371686 |
| dbSNP (classic) | rs28371686 |
| ClinGen | rs28371686 |
| ebi | rs28371686 |
| HLI | rs28371686 |
| Exac | rs28371686 |
| Gnomad | rs28371686 |
| Varsome | rs28371686 |
| LitVar | rs28371686 |
| Map | rs28371686 |
| PheGenI | rs28371686 |
| Biobank | rs28371686 |
| 1000 genomes | rs28371686 |
| hgdp | rs28371686 |
| ensembl | rs28371686 |
| geneview | rs28371686 |
| scholar | rs28371686 |
| rs28371686 | |
| pharmgkb | rs28371686 |
| gwascentral | rs28371686 |
| openSNP | rs28371686 |
| 23andMe | rs28371686 |
| SNPshot | rs28371686 |
| SNPdbe | rs28371686 |
| MSV3d | rs28371686 |
| GWAS Ctlg | rs28371686 |
| GMAF | 0.005051 |
| Max Magnitude | 2.5 |
| This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
|
rs28371686, also known as 1080C>G, 42619C>G or D360E, is a SNP in the CYP2C9 gene.
The rs28371686(G) allele defines the CYP2C9*5 variant, which appears to have decreased activity.
[PMID 20214591] Pharmacogenomics in aspirin intolerance
[PMID 18466099
] Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European-Americans and African-Americans.
[PMID 18752379] Warfarin pharmacogenetics.
[PMID 23133420] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
| ClinVar | |
|---|---|
| Risk | rs28371686(A;A) Rs28371686(G;G) |
| Alt | rs28371686(A;A) Rs28371686(G;G) |
| Reference | Rs28371686(C;C) |
| Significance | Other |
| Disease | warfarin response - Dosage not provided |
| Variation | info |
| Gene | CYP2C9 |
| CLNDBN | warfarin response - Dosage not provided |
| Reversed | 0 |
| HGVS | NC_000010.10:g.96741058C>G |
| CLNSRC | PharmGKB Clinical Annotation |
| CLNACC | RCV000211141.1, RCV000308849.1, |
