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rs3918290

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3.5 5-fluorouracil toxicity, dihydropyrimidine dehydrogenase deficiency
(A;G) 3 some 5-fluorouracil toxicity, dihydropyrimidine dehydrogenase deficiency carrier
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome1
Position97450058
GeneDPYD
is asnp
is mentioned by
dbSNPrs3918290
ebirs3918290
HLIrs3918290
Exacrs3918290
Varsomers3918290
Maprs3918290
PheGenIrs3918290
hapmaprs3918290
1000 genomesrs3918290
hgdprs3918290
ensemblrs3918290
gopubmedrs3918290
geneviewrs3918290
scholarrs3918290
googlers3918290
pharmgkbrs3918290
gwascentralrs3918290
openSNPrs3918290
23andMers3918290
23andMe allrs3918290
SNP Nexus

SNPshotrs3918290
SNPdbers3918290
MSV3drs3918290
GWAS Ctlgrs3918290
GMAF0.002755
Max Magnitude3.5
23andMe reports that the A allele of rs3918290 is associated with the rare recessive disorder dihydropyrimidine dehydrogenase deficiency (DPD), also known as hereditary thymine-uraciluria or familial pyrimidinemia. [PMID 19296131] [PMID 10071185][PMID 15377401]

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.

? (A;A) (A;G) (G;G) 28

pharmgkb - defines *2A allele, which has a significantly higher chance of 5-fluorouracil toxicity




[PMID 21723269] Genetic profiling of GSTP1, DPYD, FCGR2A, FCGR3A and CCND1 genes in an Argentinian population


[PMID 17697348OA-icon.png] Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).


[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.

Fluorouracil Toxicity


[PMID 23835662] Pharmacogenomics, ancestry and clinical decision making for global populations


ClinVar
Risk rs3918290(A,C;A,C)
Alt rs3918290(A,C;A,C)
Reference rs3918290(G;G)
Significance Drug-response
Disease Dihydropyrimidine dehydrogenase deficiency Fluorouracil response not provided Hirschsprung disease 1 Pyrimidine analogues response - Toxicity/ADR capecitabine response - Toxicity/ADR tegafur response - Toxicity/ADR fluorouracil response - Toxicity/ADR
Variation info
Gene DPYD
CLNDBN Dihydropyrimidine dehydrogenase deficiency Fluorouracil response not provided Hirschsprung disease 1 Pyrimidine analogues response - Toxicity/ADR capecitabine response - Toxicity/ADR tegafur response - Toxicity/ADR fluorouracil response - Toxicity/ADR
Reversed 1
HGVS NC_000001.10:g.97915614C>T
CLNSRC OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000000460.2, RCV000030868.2, RCV000086468.1, RCV000201291.1, RCV000211222.1, RCV000211317.1, RCV000211354.1, RCV000211404.1,



[PMID 26216193] Genotype-phenotype correlations in 5-fluorouracil metabolism: a candidate DPYD haplotype to improve toxicity prediction