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: 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: 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
dbSNP: rs12022243
rs12022243 		0.925 0.160 1 97397224 intron variant C/T snv 0.19
CUI: C0852711
Disease: Sickle Cell Dactylitis
Sickle Cell Dactylitis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Chemically-Induced Disorders; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12022243
rs12022243 		0.925 0.160 1 97397224 intron variant C/T snv 0.19
CUI: C0549410
Disease: Palmar-plantar erythrodysesthesia syndrome
Palmar-plantar erythrodysesthesia syndrome 		Skin and Connective Tissue Diseases; Chemically-Induced Disorders 0.010 1.000 1 2015 2015
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: rs1413239
rs1413239 		1 97221459 intron variant C/T snv 0.41
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1413239
rs1413239 		1 97221459 intron variant C/T snv 0.41
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs150385342
rs150385342 		1.000 0.080 1 97740400 missense variant C/A;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 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: 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: rs1801158
rs1801158 		0.925 0.160 1 97515865 missense variant C/T snv 1.5E-02 1.4E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1801159
rs1801159 		0.925 0.080 1 97515839 missense variant T/C snv 0.20 0.18
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1801159
rs1801159 		0.925 0.080 1 97515839 missense variant T/C snv 0.20 0.18
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1801160
rs1801160 		0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02
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: rs1801160
rs1801160 		0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs1801160
rs1801160 		0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
dbSNP: rs1801160
rs1801160 		0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
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