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.