{{Rsnum
|rsid=3918290
|Gene=DPYD
|Chromosome=1
|position=97450058
|Orientation=minus
|GMAF=0.002755
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=DPYD
}}[[23andMe]] reports that the T 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}}

{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.9 | 99.1
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 1.8 | 98.2
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 3.0 | 97.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 1.0 | 99.0
| HapMapRevision=28
}}
[http://www.pharmgkb.org/do/serve?objId=PA128406956 pharmgkb] - defines *2A allele, which has a significantly higher chance of [[5-fluorouracil]] toxicity

{{PharmGKB
|RSID=rs3918290
|Name_s=DPYD*2A, DPYD:IVS14 + 1G>A
|Gene_s=DPYD
|Feature=Intron
|Evidence=PubMed ID:18299612
|Annotation=Heterozygosity for the A allele of this SNP is associated with mucositis and leukopenia drug toxicity in cancer patients treated with fluorouracil. Heterozygous males were more likely than heterozygous females to develop severe toxicity. In this study, no A/A homozygotes were observed.
|Drugs=fluorouracil
|Drug Classes=
|Diseases=Drug Toxicity; Leukopenia
|Curation Level=Curated
|PharmGKB Accession ID=PA162355840
}}

{{PharmGKB
|RSID=rs3918290
|Name_s=DPYD:67887533 G>A
|Gene_s=DPYD
|Feature=Intron
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/dpyd/variant.jsp
|Annotation=Patients with the variant allele have a significantly greater chance of developing toxicity related to 5-fluorouracil treatment.
|Drugs=fluorouracil
|Drug Classes=
|Diseases=
|Curation Level=In-Depth
|PharmGKB Accession ID=PA161145170
}}

{{PMID Auto
|PMID=21723269
|Title=Genetic profiling of GSTP1, DPYD, FCGR2A, FCGR3A and CCND1 genes in an Argentinian population
}}

{{PMID Auto
|PMID=17697348
|Title=Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).
|OA=1
}}

{{PMID Auto
|PMID=18547414
|Title=Genotyping panel for assessing response to cancer chemotherapy.
|OA=1
}}

[[Fluorouracil Toxicity]]

{{PMID Auto
|PMID=23835662
|Title=Pharmacogenomics, ancestry and clinical decision making for global populations
}}

{{ClinVar
|ALT=T
|CHROM=1
|CLNACC=RCV000000460.1; RCV000030868.1; RCV000086468.1
|CLNALLE=1
|CLNDBN=Dihydropyrimidine dehydrogenase deficiency; Fluorouracil response; not provided
|CLNDSDB=MedGen:OMIM; MedGen
|CLNDSDBID=C2720286:274270; CN077983
|CLNHGVS=NC_000001.11:g.97450058C>T
|CLNORIGIN=1
|CLNSIG=5
|CLNSRC=ClinVar; GTR; OMIM Allelic Variant
|CLNSRCID=NM_000110.3:c.1905+1G>A; GTR000509033; 612779.0001
|Disease=Dihydropyrimidine dehydrogenase deficiency; Fluorouracil response; not provided
|FwdALT=A
|FwdREF=G
|GENEINFO=DPYD:1806
|GENE_ID=1806
|GENE_NAME=DPYD
|REF=C
|RSPOS=97450058
|Reversed=1
|SAO=1
|SSR=0
|Tags=RV;PM;PMC;DSS;OTH;ASP;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3
|VC=SNV
|VP=0x050028100015040517000100
|WGT=1
|dbSNPBuildID=108
|rsid=3918290
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}