PC, pyruvate carboxylase, 5091

N. diseases: 183; N. variants: 32
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: rs28940589
rs28940589 		1.000 0.120 11 66851944 missense variant C/T snv 4.0E-06
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.720 1.000 2 1998 2003
dbSNP: rs113994145
rs113994145 		1.000 0.120 11 66851880 missense variant C/T snv 4.0E-06
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2008 2014
dbSNP: rs1555013840
rs1555013840 		1.000 0.120 11 66849073 frameshift variant -/ATCA delins
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2008 2013
dbSNP: rs756355930
rs756355930 		1.000 0.120 11 66850444 frameshift variant AC/- delins 8.0E-06 7.0E-06
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2002 2008
dbSNP: rs191456353
rs191456353 		1.000 0.080 11 66872703 intron variant C/G snv 5.6E-03
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7110302
rs7110302 		11 66922983 intron variant C/T snv 0.30
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs7122539
rs7122539 		0.925 0.040 11 66895260 intron variant G/A snv 0.43
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs7122539
rs7122539 		0.925 0.040 11 66895260 intron variant G/A snv 0.43
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs79214621
rs79214621 		11 66874932 intron variant G/A snv 2.8E-02
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs113994141
rs113994141 		1.000 0.120 11 66871824 missense variant G/A snv 4.1E-06 7.0E-06
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs113994142
rs113994142 		1.000 0.120 11 66870409 missense variant A/C;G;T snv 4.0E-06
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs113994143
rs113994143 		1.000 0.120 11 66863791 missense variant G/A snv
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs113994144
rs113994144 		1.000 0.120 11 66852559 missense variant T/C snv
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs113994146
rs113994146 		1.000 0.120 11 66851149 stop gained G/T snv
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs113994147
rs113994147 		1.000 0.120 11 66850398 missense variant G/A snv
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs113994148
rs113994148 		1.000 0.120 11 66849026 frameshift variant AG/- del 4.0E-06
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs119103242
rs119103242 		1.000 0.120 11 66852516 missense variant C/A;T snv
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1258494752
rs1258494752 		1.000 0.120 11 66870397 missense variant G/A snv
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs144583275
rs144583275 		1.000 0.120 11 66872108 stop gained G/A;T snv 5.4E-06; 1.8E-03
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555014332
rs1555014332 		1.000 0.120 11 66849616 frameshift variant AC/T delins
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555014957
rs1555014957 		1.000 0.120 11 66850270 missense variant C/A snv
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555014957
rs1555014957 		1.000 0.120 11 66850270 missense variant C/A snv
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555014957
rs1555014957 		1.000 0.120 11 66850270 missense variant C/A snv
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555014957
rs1555014957 		1.000 0.120 11 66850270 missense variant C/A snv
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		0.700 0
dbSNP: rs1555025823
rs1555025823 		1.000 0.120 11 66868845 splice donor variant C/T snv
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0