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rs55886062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;C) 2 carrier of a null DPYD allele
(C;C) 3.5 5-fluorouracil toxicity
ReferenceGRCh38 38.1/142
Chromosome1
Position97515787
GeneDPYD
is asnp
is mentioned by
dbSNPrs55886062
dbSNP (classic)rs55886062
ClinGenrs55886062
ebirs55886062
HLIrs55886062
Exacrs55886062
Gnomadrs55886062
Varsomers55886062
LitVarrs55886062
Maprs55886062
PheGenIrs55886062
Biobankrs55886062
1000 genomesrs55886062
hgdprs55886062
ensemblrs55886062
geneviewrs55886062
scholarrs55886062
googlers55886062
pharmgkbrs55886062
gwascentralrs55886062
openSNPrs55886062
23andMers55886062
SNPshotrs55886062
SNPdbers55886062
MSV3drs55886062
GWAS Ctlgrs55886062
Max Magnitude3.5

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,