| Geno
|
Mag
|
Summary
|
| (A;A)
|
3.5
|
5-fluorouracil toxicity
|
| (A;T)
|
2
|
carrier of a null DPYD allele
|
| (T;T)
|
0
|
common/normal
|
rs67376798, also known as c.2846 A>T, is a SNP in the DPYD gene on chromosome 1.
Note that the "A>T" term in the name used in the literature for this SNP can be confusing, since the gene is in reverse orientation to the chromosome strand on the reference genome.
| ClinVar
|
| Risk
|
Rs67376798(A;A) |
| Alt
|
Rs67376798(A;A) |
| Reference
|
Rs67376798(T;T) |
| Significance |
Drug-response |
| Disease |
not provided tegafur response - Toxicity/ADR capecitabine response - Toxicity/ADR fluorouracil response - Toxicity/ADR Dihydropyrimidine dehydrogenase deficiency fluorouracil response - Toxicity/ADR Pyrimidine analogues response - Toxicity/ADR capecitabine response - Toxicity/ADR tegafur response - Toxicity/ADR |
| Variation | info |
|---|
| Gene |
DPYD |
| CLNDBN |
not provided tegafur response - Toxicity/ADR capecitabine response - Toxicity/ADR fluorouracil response - Toxicity/ADR Dihydropyrimidine dehydrogenase deficiency fluorouracil response - Toxicity/ADR, Metabolism/PK Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK capecitabine response - Toxicity/ADR, Metabolism/PK tegafur response - Toxicity/ADR, Metabolism/PK |
| Reversed |
0 |
| HGVS |
NC_000001.10:g.97547947T>A |
| CLNSRC |
PharmGKB Clinical Annotation |
| CLNACC |
RCV000086452.1, RCV000211225.1, RCV000211280.1, RCV000211407.1, RCV000410600.1, RCV000417132.1, RCV000417148.1, RCV000417165.1, RCV000417175.1, |
