GLDC, glycine decarboxylase, 2731

N. diseases: 78; N. variants: 146
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: rs386833572
rs386833572 		1.000 0.120 9 6534735 stop gained -/T delins 4.0E-06; 4.0E-06 7.0E-06
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386833576
rs386833576 		1.000 0.120 9 6620259 stop gained G/A;C;T snv 8.0E-06
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386833579
rs386833579 		1.000 0.120 9 6620197 stop gained C/A snv
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386833585
rs386833585 		1.000 0.120 9 6606599 stop gained G/A;C snv 4.0E-06; 4.0E-06
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386833588
rs386833588 		1.000 0.120 9 6605184 stop gained C/A snv
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121964976
rs121964976 		0.882 0.160 9 6589230 missense variant C/G;T snv 8.7E-05; 2.3E-02
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 13 1991 2017
dbSNP: rs386833556
rs386833556 		1.000 0.120 9 6553457 missense variant G/A;C snv 8.0E-06
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 8 1991 2019
dbSNP: rs386833589
rs386833589 		1.000 0.120 9 6605145 missense variant C/G snv 4.0E-06 2.1E-05
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 8 1991 2017
dbSNP: rs772871471
rs772871471 		1.000 0.120 9 6587249 missense variant G/C snv 1.6E-05
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 7 1991 2019
dbSNP: rs121964974
rs121964974 		1.000 0.120 9 6588417 missense variant C/A snv 2.1E-04 1.5E-04
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 6 1991 2017
dbSNP: rs121964979
rs121964979 		0.925 0.160 9 6595109 missense variant G/A;T snv 2.8E-05; 4.0E-06
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 2004 2017
dbSNP: rs150171524
rs150171524 		1.000 0.120 9 6602147 missense variant G/A;C snv 1.2E-05; 4.0E-06
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 6 1991 2017
dbSNP: rs1554648117
rs1554648117 		1.000 0.120 9 6605193 missense variant G/C snv
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1991 2017
dbSNP: rs761957837
rs761957837 		1.000 0.120 9 6592871 missense variant G/A snv 8.0E-06
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1991 2017
dbSNP: rs774093619
rs774093619 		1.000 0.120 9 6602138 missense variant T/C;G snv 4.0E-06
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1991 2017
dbSNP: rs386833553
rs386833553 		1.000 0.120 9 6554673 missense variant C/T snv 3.5E-05
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 2006 2015
dbSNP: rs386833524
rs386833524 		1.000 0.120 9 6592870 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 2006 2017
dbSNP: rs386833587
rs386833587 		1.000 0.120 9 6605186 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 2006 2017
dbSNP: rs1207147043
rs1207147043 		1.000 0.120 9 6604735 missense variant G/A snv
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs1406713104
rs1406713104 		1.000 0.120 9 6533100 missense variant C/T snv 1.4E-05
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2017 2017
dbSNP: rs1554643619
rs1554643619 		1.000 0.120 9 6553502 missense variant G/A snv
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2006 2017
dbSNP: rs1554646653
rs1554646653 		1.000 0.120 9 6588641 missense variant G/C snv
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs386833549
rs386833549 		1.000 0.120 9 6554703 missense variant C/G;T snv 1.7E-04
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs386833583
rs386833583 		0.882 0.200 9 6610222 missense variant G/A snv
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.720 1.000 2 2011 2018
dbSNP: rs925908885
rs925908885 		1.000 0.120 9 6540132 missense variant C/T snv
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2015 2017