{{Rsnum
|rsid=1801265
|Gene=DPYD
|Chromosome=1
|position=97883329
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.2305
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=DPYD
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 2.7 | 25.7 | 71.7
| HCB | 0.0 | 13.9 | 86.1
| JPT | 0.9 | 11.5 | 87.6
| YRI | 17.1 | 49.3 | 33.6
| ASW | 19.3 | 52.6 | 28.1
| CHB | 0.0 | 13.9 | 86.1
| CHD | 0.0 | 15.6 | 84.4
| GIH | 6.9 | 47.5 | 45.5
| LWK | 25.7 | 45.9 | 28.4
| MEX | 10.3 | 31.0 | 58.6
| MKK | 12.3 | 51.0 | 36.8
| TSI | 6.9 | 33.3 | 59.8
| HapMapRevision=28
}}{{omim
| id = 274270
| variant = 0004
| desc    = DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
| rsnum   = 1801265
}}

{{Venter SNP
|rsid=1801265
|allele=A
|frequency=0.833
|uid=1103675171117
|type=homozygous_SNP
|hugo=DPYD
|ensembl gene=ENSG00000188641
|ensembl transcript=ENST00000370192
|sift=TOLERATED
|disease=Defects in DPYD are the cause of dihydropyrimidine dehydrogenase deficiency (DPYD deficiency) (MIM:274270); also known as hereditary thymine-uraciluria or familial pyrimidinemia. DPYD deficiency is a disease characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5- hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil. This reaction includes stomatitis, Leukopenia, thrombocytopenia, hair loss, diarrhea, fever, marked weight loss, cerebellar ataxia, and neurologic symptoms, progressing to semicoma.
}}

{{PharmGKB
|RSID=rs1801265
|Name_s=DPYD*9A, DPYD:C29R, DYPD:T85C
|Gene_s=DPYD
|Feature=Exon/NonSyn
|Evidence=PubMed ID:17848752; PubMed ID:9918128
|Annotation=Patients heterozygous for the C allele of this SNP exhibited increased incidence of medium-severe nausea and vomiting (as defined by WHO criteria) relative to those carrying only the T allele. The patient population consisted of individuals with gastric or colon carcinoma undergoing chemotherapy with 5-fluorouracil.
|Drugs=fluorouracil
|Drug Classes=
|Diseases=Nausea; Vomiting
|Curation Level=Curated
|PharmGKB Accession ID=PA162355824
}}

{{omim
|id=612779
|rsnum=1801265
|variant=0004
}}

{{ClinVar
|rsid=1801265
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=97883329
|CHROM=1
|GMAF=0.2308
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05017800000515051f110100
|WGT=1
|VC=SNV
|CLNALLE=0; 1
|CLNHGVS=NC_000001.11:g.97883329A\x3d; NC_000001.11:g.97883329A>G
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=0; 1
|CLNSRCID=NM_000110.3:c.85T\x3d; NM_000110.3:c.85T>C; 612779.0004
|CLNSIG=5
|CLNCUI=C2720286
|CLNDBN=not provided; Dihydropyrimidine dehydrogenase deficiency
|Disease=not provided; Dihydropyrimidine dehydrogenase deficiency
|CLNACC=RCV000086506.1; RCV000000464.1
|Tags=RV;PM;TPA;PMC;SLO;ASP;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.2305; 0.7695
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C2720286:274270
|COMMON=1
|GENEINFO=DPYD:1806
|GENE_ID=1806
|GENE_NAME=DPYD
}}

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

{{PMID|18381459|OA=1
}} Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.

{{PMID|19104657|OA=1
}} Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients.

{{PMID|20570913|OA=1
}} Genetic variation in TYMS in the one-carbon transfer pathway is associated with ovarian carcinoma types in the Ovarian Cancer Association Consortium.

{{GET Evidence
|gene=DPYD
|aa_change=Arg29Cys
|aa_change_short=R29C
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs1801265
|overall_frequency_n=7680
|overall_frequency_d=10758
|overall_frequency=0.713887
|n_genomes=48
|n_genomes_annotated=0
|n_haplomes=77
|n_articles=5
|n_articles_annotated=5
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_severity=5
|qualitycomment_severity=Y
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=8
|autoscore=2
|n_web_uneval=1
|summary_short=This variant is also known as DPYD*9A, and is associated with Dihydropyrimidine dehydrogenase deficiency and impaired clearance of 5-fluorouracil with potential toxic consequence.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}