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: 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: rs12047563
rs12047563 		1 97388977 intron variant C/A snv 0.19
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
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: rs17378539
rs17378539 		1 97743554 intron variant T/C snv 0.12
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
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: 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: rs367619008
rs367619008 		0.925 0.080 1 97828160 missense variant T/C snv 3.2E-05 3.5E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2011 2011
dbSNP: rs371792178
rs371792178 		0.925 0.040 1 97699507 missense variant G/A;C snv 3.6E-05; 1.2E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
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: 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: 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: rs6663751
rs6663751 		1 97412887 intron variant C/A snv 0.10
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
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: 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: rs76586805
rs76586805 		1 97864883 intron variant T/C snv 7.0E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs9659380
rs9659380 		1 97957593 intron variant G/A snv 0.84
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		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: rs6685859
rs6685859 		1.000 0.040 1 97357213 intron variant G/C snv 0.45
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs78164635
rs78164635 		1 97823025 intron variant T/C;G snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs80289781
rs80289781 		1.000 0.040 1 97980274 intron variant C/G;T snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
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: 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: 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: 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