Annotation Detail
Information
- Associated Genes
- SLCO1B1
- Associated Variants
-
SLCO1B1 p.Asn130Asp (p.N130D)
(
ENST00000256958.3 )
SLCO1B1 p.Asn130Asp (p.N130D) ( ENST00000256958.3 ) - Associated Disease
- cancer
- Source Database
- CIViC Evidence
- Description
- 499 children from ALL trials treated with methotrexate were genotyped for 8 SNPs in 5 genes. The SLCO1B1 RS2306283 variant was significantly associated with MTX AUC0-48h and as such associated with increased toxicity.
- Variant Origin
- Common Germline
- Variant Origin
- Common Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1842
- Gene URL
- https://civic.genome.wustl.edu/links/genes/8450
- Variant URL
- https://civic.genome.wustl.edu/links/variants/778
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Supports
- Drug
- Methotrexate
- Evidence Level
- B
- Clinical Significance
- Adverse Response
- Pubmed
- 23652803
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Methotrexate | Adverse Response | true |