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: 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
dbSNP: rs1565209327
rs1565209327 		1.000 0.120 11 66849958 frameshift variant -/A 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: rs1565245427
rs1565245427 		1.000 0.120 11 66871427 frameshift variant GCTC/- 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: rs28940590
rs28940590 		1.000 0.120 11 66850918 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: rs28940591
rs28940591 		1.000 0.120 11 66871368 missense variant A/C;G 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: rs755640269
rs755640269 		1.000 0.120 11 66863773 splice donor variant C/A;T snv 8.1E-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: rs763433647
rs763433647 		1.000 0.120 11 66871050 splice donor variant A/G snv 8.0E-06 1.4E-05
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: rs768514713
rs768514713 		1.000 0.120 11 66863785 stop gained 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: rs769177104
rs769177104 		1.000 0.120 11 66870417 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 0
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