UMPS, uridine monophosphate synthetase, 7372

N. diseases: 102; N. variants: 8
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: rs17843797
rs17843797 		1.000 0.040 3 124734175 intron variant T/G snv 0.10
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 2 2017 2018
dbSNP: rs121917890
rs121917890 		1.000 0.080 3 124735222 missense variant A/G snv 2.8E-05 1.4E-05
CUI: C0268130
Disease: Hereditary orotic aciduria, type 1
Hereditary orotic aciduria, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1997 1997
dbSNP: rs121917891
rs121917891 		1.000 0.080 3 124743926 missense variant G/C snv 5.6E-05 1.4E-05
CUI: C0268130
Disease: Hereditary orotic aciduria, type 1
Hereditary orotic aciduria, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1997 1997
dbSNP: rs121917892
rs121917892 		1.000 0.080 3 124737583 stop lost T/G snv
CUI: C0268130
Disease: Hereditary orotic aciduria, type 1
Hereditary orotic aciduria, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1997 1997
dbSNP: rs4678145
rs4678145 		0.925 0.120 3 124731234 intron variant G/A;C snv 0.10
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4678145
rs4678145 		0.925 0.120 3 124731234 intron variant G/A;C snv 0.10
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.700 1.000 1 2019 2019
dbSNP: rs689449
rs689449 		3 124748400 3 prime UTR variant C/A;G snv 0.33; 3.1E-05
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs121917892
rs121917892 		1.000 0.080 3 124737583 stop lost T/G snv
CUI: C0268128
Disease: Orotic aciduria
Orotic aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1344899647
rs1344899647 		3 124740164 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0268128
Disease: Orotic aciduria
Orotic aciduria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1801019
rs1801019 		0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2006 2011
dbSNP: rs1801019
rs1801019 		0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1801019
rs1801019 		0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs1801019
rs1801019 		0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006