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: rs1801160
rs1801160 		0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.040 1.000 4 2009 2019
dbSNP: rs1801160
rs1801160 		0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.040 1.000 4 2009 2019
dbSNP: rs67376798
rs67376798 		0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.030 1.000 3 2014 2019
dbSNP: rs67376798
rs67376798 		0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.030 1.000 3 2014 2019
dbSNP: rs72549310
rs72549310 		1.000 0.080 1 97883353 stop gained G/A snv 1.2E-05
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2003 2014
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: rs1801158
rs1801158 		0.925 0.160 1 97515865 missense variant C/T snv 1.5E-02 1.4E-02
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 0.500 2 2007 2015
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: rs2297595
rs2297595 		0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.020 1.000 2 2009 2019
dbSNP: rs2297595
rs2297595 		0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2016 2019
dbSNP: rs2297595
rs2297595 		0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.020 1.000 2 2009 2019
dbSNP: rs67376798
rs67376798 		0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2015 2016
dbSNP: rs67376798
rs67376798 		0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2015 2016
dbSNP: rs67376798
rs67376798 		0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2014 2015
dbSNP: rs1057516357
rs1057516357 		1.000 0.080 1 97573759 splice donor variant C/A snv
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2005 2005
dbSNP: rs1057516968
rs1057516968 		1.000 0.080 1 97515785 stop gained G/A snv 8.0E-06 3.5E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1057516968
rs1057516968 		1.000 0.080 1 97515785 stop gained G/A snv 8.0E-06 3.5E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1057516968
rs1057516968 		1.000 0.080 1 97515785 stop gained G/A snv 8.0E-06 3.5E-05
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10875120
rs10875120 		1 97934347 intron variant G/T snv 0.72
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs11165851
rs11165851 		1.000 0.080 1 97380021 intron variant T/A snv 0.93
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs11165867
rs11165867 		1.000 0.040 1 97412512 intron variant C/T snv 0.16
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs115232898
rs115232898 		1.000 0.080 1 97699474 missense variant T/C snv 1.7E-03 6.1E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs115232898
rs115232898 		1.000 0.080 1 97699474 missense variant T/C snv 1.7E-03 6.1E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs115232898
rs115232898 		1.000 0.080 1 97699474 missense variant T/C snv 1.7E-03 6.1E-03
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1188134745
rs1188134745 		1.000 0.080 1 97515766 missense variant C/T snv 4.0E-06
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018