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: 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: 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: rs67376798
rs67376798 		0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs67376798
rs67376798 		0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs67376798
rs67376798 		0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03
CUI: C0011175
Disease: Dehydration
Dehydration 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs67376798
rs67376798 		0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs753950237
rs753950237 		0.882 0.160 1 97082400 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0268380
Disease: Systemic amyloidosis
Systemic amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs753950237
rs753950237 		0.882 0.160 1 97082400 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
Mixed sensory-motor polyneuropathy 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs753950237
rs753950237 		0.882 0.160 1 97082400 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0281479
Disease: Primary Systemic Amyloidosis
Primary Systemic Amyloidosis 		Neoplasms; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 2007 2007
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: rs1057517230
rs1057517230 		1.000 0.080 1 97098507 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: rs1553212596
rs1553212596 		1.000 0.080 1 97098533 stop gained T/A snv
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516873
rs1057516873 		1.000 0.080 1 97098575 stop gained T/A;C snv 4.0E-06
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1801267
rs1801267 		1.000 0.080 1 97098598 missense variant C/T snv 4.4E-05 2.8E-05
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs7529372
rs7529372 		1 97181782 intron variant C/T snv 0.21
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs6656660
rs6656660 		1 97183653 intron variant G/T snv 0.21
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1057517095
rs1057517095 		1.000 0.080 1 97193068 splice donor variant C/T snv
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: rs746991079
rs746991079 		1.000 0.080 1 97193112 frameshift variant T/- del 3.6E-05 6.3E-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 2011 2011
dbSNP: rs1057517271
rs1057517271 		1.000 0.080 1 97193137 stop gained G/A snv
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs4128473
rs4128473 		1 97207282 intron variant T/C snv 0.22
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
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