DPYD, dihydropyrimidine dehydrogenase, 1806

N. diseases: 249; N. variants: 101
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517396
rs1057517396 		1.000 0.080 1 97373579 frameshift variant -/A delins
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs779948148
rs779948148 		1.000 0.080 1 97549704 frameshift variant -/C delins 4.0E-06
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516828
rs1057516828 		1.000 0.080 1 97305271 frameshift variant -/T ins
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057517327
rs1057517327 		1.000 0.080 1 97193101 frameshift variant -/T delins
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516711
rs1057516711 		1.000 0.080 1 97595107 frameshift variant A/- delins
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516894
rs1057516894 		1.000 0.080 1 97098501 frameshift variant A/- delins
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516997
rs1057516997 		1.000 0.080 1 97699508 frameshift variant A/- delins
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs764584080
rs764584080 		1.000 0.080 1 97515739 frameshift variant A/- delins
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs75641275
rs75641275 		1 97861577 intron variant A/C snv 0.10
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2018 2018
dbSNP: rs75641275
rs75641275 		1 97861577 intron variant A/C snv 0.10
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs12072739
rs12072739 		1 97850337 intron variant A/C;G snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs11165924
rs11165924 		1 97909892 intron variant A/G snv 0.23
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 2 2014 2019
dbSNP: rs1801265
rs1801265 		0.763 0.280 1 97883329 missense variant A/G snv 0.28
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2016 2017
dbSNP: rs1218899764
rs1218899764 		1.000 0.040 1 97515829 missense variant A/G snv
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17376848
rs17376848 		0.925 0.040 1 97450068 synonymous variant A/G snv 5.1E-02 4.3E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs17376848
rs17376848 		0.925 0.040 1 97450068 synonymous variant A/G snv 5.1E-02 4.3E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17376848
rs17376848 		0.925 0.040 1 97450068 synonymous variant A/G snv 5.1E-02 4.3E-02
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1801265
rs1801265 		0.763 0.280 1 97883329 missense variant A/G snv 0.28
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs1801265
rs1801265 		0.763 0.280 1 97883329 missense variant A/G snv 0.28
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1801265
rs1801265 		0.763 0.280 1 97883329 missense variant A/G snv 0.28
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1801265
rs1801265 		0.763 0.280 1 97883329 missense variant A/G snv 0.28
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs1801265
rs1801265 		0.763 0.280 1 97883329 missense variant A/G snv 0.28
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1801265
rs1801265 		0.763 0.280 1 97883329 missense variant A/G snv 0.28
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1801265
rs1801265 		0.763 0.280 1 97883329 missense variant A/G snv 0.28
CUI: C0521585
Disease: Gastrointestinal mucositis
Gastrointestinal mucositis 		Digestive System Diseases; Stomatognathic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1801265
rs1801265 		0.763 0.280 1 97883329 missense variant A/G snv 0.28
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017