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: 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: 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: 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: 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: 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: 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: rs36025579
rs36025579 		1.000 0.040 1 97337068 intron variant A/G snv 0.26
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
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: rs4271249
rs4271249 		1.000 0.040 1 97933063 intron variant G/T snv 0.45
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
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: rs61789073
rs61789073 		1.000 0.040 1 97938540 intron variant T/C snv 4.9E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
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: rs6685859
rs6685859 		1.000 0.040 1 97357213 intron variant G/C snv 0.45
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 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: rs75267292
rs75267292 		1.000 0.080 1 97335751 intron variant A/G snv 2.9E-02
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
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: rs7548189
rs7548189 		0.882 0.160 1 97402157 intron variant C/A 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: rs7548189
rs7548189 		0.882 0.160 1 97402157 intron variant C/A 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: 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