rs72558187
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | CYP2C9*13 homozygote | |
| (C;T) | carrier of one CYP2C9*13 allele | |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 94941958 |
| Gene | CYP2C9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72558187 |
| dbSNP (classic) | rs72558187 |
| ClinGen | rs72558187 |
| ebi | rs72558187 |
| HLI | rs72558187 |
| Exac | rs72558187 |
| Gnomad | rs72558187 |
| Varsome | rs72558187 |
| LitVar | rs72558187 |
| Map | rs72558187 |
| PheGenI | rs72558187 |
| Biobank | rs72558187 |
| 1000 genomes | rs72558187 |
| hgdp | rs72558187 |
| ensembl | rs72558187 |
| geneview | rs72558187 |
| scholar | rs72558187 |
| rs72558187 | |
| pharmgkb | rs72558187 |
| gwascentral | rs72558187 |
| openSNP | rs72558187 |
| 23andMe | rs72558187 |
| SNPshot | rs72558187 |
| SNPdbe | rs72558187 |
| MSV3d | rs72558187 |
| GWAS Ctlg | rs72558187 |
| Max Magnitude | 0 |
rs72558187, also known as 269T>C, 3276T>C or L90P, is a SNP in the CYP2C9 gene.
The rs72558187(C) allele defines the CYP2C9*13 variant, which has decreased activity.
| ClinVar | |
|---|---|
| Risk | Rs72558187(C;C) |
| Alt | Rs72558187(C;C) |
| Reference | Rs72558187(T;T) |
| Significance | Untested |
| Disease | |
| Variation | info |
| Gene | CYP2C9 |
| CLNDBN | |
| Reversed | 0 |
| HGVS | NC_000010.10:g.96701715T>C |
| CLNSRC | |
| CLNACC | |
[PMID 15226678] Identification of a novel variant CYP2C9 allele in Chinese.
[PMID 15764711] Role of CYP2C9 and its variants (CYP2C9*3 and CYP2C9*13) in the metabolism of lornoxicam in humans.
[PMID 16308280] Catalytic activities of human cytochrome P450 2C9*1, 2C9*3 and 2C9*13.
