rs3918290

minus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

97450058

Gene

DPYD

is a	snp
is	mentioned by
dbSNP	rs3918290
dbSNP (classic)	rs3918290
ClinGen	rs3918290
ebi	rs3918290
HLI	rs3918290
Exac	rs3918290
Gnomad	rs3918290
Varsome	rs3918290
LitVar	rs3918290
Map	rs3918290
PheGenI	rs3918290
Biobank	rs3918290
1000 genomes	rs3918290
hgdp	rs3918290
ensembl	rs3918290
geneview	rs3918290
scholar	rs3918290
google	rs3918290
pharmgkb	rs3918290
gwascentral	rs3918290
openSNP	rs3918290
23andMe	rs3918290
SNPshot	rs3918290
SNPdbe	rs3918290
MSV3d	rs3918290
GWAS Ctlg	rs3918290

GMAF

0.002755

Max Magnitude

3.5

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 17697348 ] Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).

[PMID 18547414 ] 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;A) rs3918290(C;C)
Alt	Rs3918290(A;A) rs3918290(C;C)
Reference	Rs3918290(G;G)
Significance	Drug-response
Disease	fluorouracil response - Toxicity/ADR Pyrimidine analogues response - Toxicity/ADR capecitabine response - Toxicity/ADR tegafur response - Toxicity/ADR 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	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 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>G; NC_000001.10:g.97915614C>T
CLNSRC	OMIM Allelic Variant PharmGKB Clinical Annotation
CLNACC	RCV000417142.1, RCV000417164.1, RCV000417180.1, RCV000417181.1, RCV000000460.3, RCV000030868.2, RCV000086468.2, 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

[PMID 29372689] DPYD genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from Slovakia.