rs55886062
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common/normal |
(A;C) | 2 | carrier of a null DPYD allele |
(C;C) | 3.5 | 5-fluorouracil toxicity |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 97515787 |
Gene | DPYD |
is a | snp |
is | mentioned by |
dbSNP | rs55886062 |
dbSNP (classic) | rs55886062 |
ClinGen | rs55886062 |
ebi | rs55886062 |
HLI | rs55886062 |
Exac | rs55886062 |
Gnomad | rs55886062 |
Varsome | rs55886062 |
LitVar | rs55886062 |
Map | rs55886062 |
PheGenI | rs55886062 |
Biobank | rs55886062 |
1000 genomes | rs55886062 |
hgdp | rs55886062 |
ensembl | rs55886062 |
geneview | rs55886062 |
scholar | rs55886062 |
rs55886062 | |
pharmgkb | rs55886062 |
gwascentral | rs55886062 |
openSNP | rs55886062 |
23andMe | rs55886062 |
SNPshot | rs55886062 |
SNPdbe | rs55886062 |
MSV3d | rs55886062 |
GWAS Ctlg | rs55886062 |
Max Magnitude | 3.5 |
rs55886062, also known as c.1679 T>G, encodes the DPYD*13 allele of the DPYD gene on chromosome 1.
Note that the terms used in the literature for this gene can be confusing, since the gene is in reverse orientation to the chromosome strand on the reference genome.
ClinVar | |
---|---|
Risk | Rs55886062(C;C) rs55886062(T;T) |
Alt | Rs55886062(C;C) rs55886062(T;T) |
Reference | Rs55886062(A;A) |
Significance | Drug-response |
Disease | not provided fluorouracil response - Toxicity/ADR Pyrimidine analogues response - Toxicity/ADR capecitabine response - Toxicity/ADR tegafur response - Toxicity/ADR Dihydropyrimidine dehydrogenase deficiency |
Variation | info |
Gene | DPYD |
CLNDBN | not provided fluorouracil response - Toxicity/ADR Pyrimidine analogues response - Toxicity/ADR capecitabine response - Toxicity/ADR tegafur response - Toxicity/ADR Dihydropyrimidine dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.97981343A>C |
CLNSRC | PharmGKB Clinical Annotation |
CLNACC | RCV000086474.3, RCV000211143.1, RCV000211265.1, RCV000211360.1, RCV000211391.1, RCV000410952.1, |