DPYD, dihydropyrimidine dehydrogenase, 1806

N. diseases: 249; N. variants: 101
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801265
rs1801265
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C1959620
Disease:
Dihydropyrimidine Dehydrogenase Deficiency
0.710 GeneticVariation BEFREE This analysis identified the variants c.85T>C and c.496A>G, which were previously described as pivotal components of the haplotype associated with decreased enzyme activity and suggested that both variant alleles are related to DPD deficiency. 30915274 2019
dbSNP: rs1801266
rs1801266
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C1959620
Disease:
Dihydropyrimidine Dehydrogenase Deficiency
0.710 GeneticVariation BEFREE Sequence analysis in a patient with complete DPD deficiency, previously shown to be heterozygous for the delta C1897 frame-shift mutation, revealed the presence of a novel missense mutation, R235W. 9439663 1997
dbSNP: rs1801265
rs1801265
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C1959620
Disease:
Dihydropyrimidine Dehydrogenase Deficiency
0.710 GeneticVariation UNIPROT
dbSNP: rs1801266
rs1801266
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C1959620
Disease:
Dihydropyrimidine Dehydrogenase Deficiency
0.710 GeneticVariation UNIPROT
dbSNP: rs10875120
rs10875120
Entrez Id: 1806;400765;109729128
Gene Symbol: DPYD;MIR137HG;LINC01930
DPYD;MIR137HG;LINC01930
CUI: C0205682
Disease:
Waist-Hip Ratio
T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs11165924
rs11165924
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C1314691
Disease:
Age at menarche
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12072739
rs12072739
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C1305855
Disease:
Body mass index
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs4271249
rs4271249
Entrez Id: 1806;109729128
Gene Symbol: DPYD;LINC01930
DPYD;LINC01930
CUI: C0036341
Disease:
Schizophrenia
T 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
dbSNP: rs4379706
rs4379706
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C1305855
Disease:
Body mass index
T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs6685859
rs6685859
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C0036341
Disease:
Schizophrenia
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
dbSNP: rs6685859
rs6685859
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C0021704
Disease:
Intelligence
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
dbSNP: rs7552188
rs7552188
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C0017168
Disease:
Gastroesophageal reflux disease
T 0.700 GeneticVariation GWASCAT Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases. 31527586 2019
dbSNP: rs75641275
rs75641275
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs78164635
rs78164635
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C0021704
Disease:
Intelligence
T 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs80289781
rs80289781
Entrez Id: 1806;400765
Gene Symbol: DPYD;MIR137HG
DPYD;MIR137HG
CUI: C0036341
Disease:
Schizophrenia
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
dbSNP: rs80289781
rs80289781
Entrez Id: 1806;400765
Gene Symbol: DPYD;MIR137HG
DPYD;MIR137HG
CUI: C0021704
Disease:
Intelligence
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
dbSNP: rs9659380
rs9659380
Entrez Id: 1806;400765
Gene Symbol: DPYD;MIR137HG
DPYD;MIR137HG
CUI: C0205682
Disease:
Waist-Hip Ratio
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs11165867
rs11165867
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C0036341
Disease:
Schizophrenia
0.700 GeneticVariation GWASCAT Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. 29483656 2018
dbSNP: rs12047563
rs12047563
Entrez Id: 1806;105378867
Gene Symbol: DPYD;LOC105378867
DPYD;LOC105378867
CUI: C0596887
Disease:
mathematical ability
A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs17378539
rs17378539
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C0596887
Disease:
mathematical ability
T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1801265
rs1801265
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C1305855
Disease:
Body mass index
G 0.700 GeneticVariation GWASCAT Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 29273807 2018
dbSNP: rs6663751
rs6663751
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C0596887
Disease:
mathematical ability
A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs75641275
rs75641275
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C0424574
Disease:
Duration of sleep
A 0.700 GeneticVariation GWASCAT GWAS identifies 14 loci for device-measured physical activity and sleep duration. 30531941 2018
dbSNP: rs76586805
rs76586805
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C0596887
Disease:
mathematical ability
T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs36025579
rs36025579
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
CUI: C0036341
Disease:
Schizophrenia
G 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. 28991256 2017