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: rs1801265
rs1801265 		0.763 0.280 1 97883329 missense variant A/G snv 0.28
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
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: rs371792178
rs371792178 		0.925 0.040 1 97699507 missense variant G/A;C snv 3.6E-05; 1.2E-05
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
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: 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: rs4379706
rs4379706 		1 97856823 non coding transcript exon variant C/T snv 0.72
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
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: rs2297595
rs2297595 		0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs371792178
rs371792178 		0.925 0.040 1 97699507 missense variant G/A;C snv 3.6E-05; 1.2E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs61789073
rs61789073 		1.000 0.040 1 97938540 intron variant T/C snv 4.9E-02
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
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: 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: 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: 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: 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2297595
rs2297595 		0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs768288280
rs768288280 		1.000 0.080 1 97740403 missense variant T/C snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
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: rs367619008
rs367619008 		0.925 0.080 1 97828160 missense variant T/C snv 3.2E-05 3.5E-05
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.010 1.000 1 2011 2011
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: 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: 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: rs56038477
rs56038477 		1 97573863 synonymous variant C/T snv 1.4E-02 1.3E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs7548189
rs7548189 		0.882 0.160 1 97402157 intron variant C/A snv 0.19
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015