rs2279345
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs2279345(C;C) |
Make rs2279345(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 41009797 |
Gene | CYP2B6 |
is a | snp |
is | mentioned by |
dbSNP | rs2279345 |
dbSNP (classic) | rs2279345 |
ClinGen | rs2279345 |
ebi | rs2279345 |
HLI | rs2279345 |
Exac | rs2279345 |
Gnomad | rs2279345 |
Varsome | rs2279345 |
LitVar | rs2279345 |
Map | rs2279345 |
PheGenI | rs2279345 |
Biobank | rs2279345 |
1000 genomes | rs2279345 |
hgdp | rs2279345 |
ensembl | rs2279345 |
geneview | rs2279345 |
scholar | rs2279345 |
rs2279345 | |
pharmgkb | rs2279345 |
gwascentral | rs2279345 |
openSNP | rs2279345 |
23andMe | rs2279345 |
SNPshot | rs2279345 |
SNPdbe | rs2279345 |
MSV3d | rs2279345 |
GWAS Ctlg | rs2279345 |
GMAF | 0.2998 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 20639527] Haplotype structure of CYP2B6 and association with plasma efavirenz concentrations in a Chilean HIV cohort
[PMID 21694616] CYP2B6 polymorphisms influence the plasma concentration and clearance of the methadone S-enantiomer.
ClinVar | |
---|---|
Risk | rs2279345(A;A) rs2279345(C;C) |
Alt | rs2279345(A;A) rs2279345(C;C) |
Reference | Rs2279345(T;T) |
Significance | Drug-response |
Disease | efavirenz response - Metabolism/PK |
Variation | info |
Gene | CYP2B6 |
CLNDBN | efavirenz response - Metabolism/PK |
Reversed | 0 |
HGVS | NC_000019.9:g.41515702T>C |
CLNSRC | PharmGKB Clinical Annotation PharmGKB |
CLNACC | RCV000417127.1, |