DHODH, dihydroorotate dehydrogenase (quinone), 1723

N. diseases: 100; N. variants: 11
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: rs201230446
rs201230446 		0.925 0.400 16 72014641 missense variant C/T snv 3.5E-04 5.3E-04
CUI: C0265257
Disease: Genee-Wiedemann syndrome
Genee-Wiedemann syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.810 1.000 4 2010 2012
dbSNP: rs201947120
rs201947120 		0.925 0.400 16 72023536 missense variant C/T snv 7.6E-05 6.3E-05
CUI: C0265257
Disease: Genee-Wiedemann syndrome
Genee-Wiedemann syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.810 1.000 2 2010 2012
dbSNP: rs267606767
rs267606767 		0.925 0.400 16 72021211 missense variant G/A;C snv 3.7E-05; 4.1E-06
CUI: C0265257
Disease: Genee-Wiedemann syndrome
Genee-Wiedemann syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.810 1.000 2 2010 2012
dbSNP: rs267606768
rs267606768 		1.000 0.160 16 72022386 missense variant C/G;T snv 6.3E-06
CUI: C0265257
Disease: Genee-Wiedemann syndrome
Genee-Wiedemann syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2010 2010
dbSNP: rs267606769
rs267606769 		1.000 0.160 16 72021201 missense variant C/A;T snv 4.2E-06; 3.7E-05
CUI: C0265257
Disease: Genee-Wiedemann syndrome
Genee-Wiedemann syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2010 2010
dbSNP: rs11648003
rs11648003 		16 72018449 intron variant A/G snv 0.18
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs11648003
rs11648003 		16 72018449 intron variant A/G snv 0.18
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs11864453
rs11864453 		16 72016581 non coding transcript exon variant C/T snv 0.39
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2017 2017
dbSNP: rs267606765
rs267606765 		1.000 0.160 16 72012084 missense variant G/A;C snv 6.8E-05; 8.0E-06
CUI: C0265257
Disease: Genee-Wiedemann syndrome
Genee-Wiedemann syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs267606766
rs267606766 		1.000 0.160 16 72017043 missense variant G/A snv 7.6E-05 5.6E-05
CUI: C0265257
Disease: Genee-Wiedemann syndrome
Genee-Wiedemann syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs779076692
rs779076692 		1.000 0.160 16 72024186 missense variant A/G snv 1.2E-05
CUI: C0265257
Disease: Genee-Wiedemann syndrome
Genee-Wiedemann syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs8057016
rs8057016 		1.000 0.080 16 72012312 intron variant G/A;T snv 5.7E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs201230446
rs201230446 		0.925 0.400 16 72014641 missense variant C/T snv 3.5E-04 5.3E-04
CUI: C0812435
Disease: Chromosome 11p deletion syndrome
Chromosome 11p deletion syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs201947120
rs201947120 		0.925 0.400 16 72023536 missense variant C/T snv 7.6E-05 6.3E-05
CUI: C0812435
Disease: Chromosome 11p deletion syndrome
Chromosome 11p deletion syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267606767
rs267606767 		0.925 0.400 16 72021211 missense variant G/A;C snv 3.7E-05; 4.1E-06
CUI: C0812435
Disease: Chromosome 11p deletion syndrome
Chromosome 11p deletion syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012