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: rs17591030
rs17591030 		9 6550024 intron variant C/A;T snv
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2013966
rs2013966 		9 6539256 intron variant T/C snv 0.11
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs34298851
rs34298851 		9 6627017 intron variant C/T snv 0.23
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs75636497
rs75636497 		1.000 0.080 9 6545605 intron variant C/A;G snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs386833517
rs386833517 		1.000 0.120 9 6604637 stop gained G/A;C snv 1.6E-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 4 2006 2017
dbSNP: rs386833521
rs386833521 		1.000 0.120 9 6592982 stop gained G/A snv 2.0E-05 7.2E-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 3 2006 2015
dbSNP: rs386833531
rs386833531 		1.000 0.120 9 6587205 stop gained G/A snv 1.2E-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 3 2006 2015
dbSNP: rs191905539
rs191905539 		1.000 0.120 9 6610328 stop gained C/A snv 2.0E-05 1.2E-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: rs1163356968
rs1163356968 		1.000 0.120 9 6645476 stop gained C/G;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 1 2017 2017
dbSNP: rs1226098656
rs1226098656 		1.000 0.120 9 6595081 stop gained G/A;T 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 1 2017 2017
dbSNP: rs1430968530
rs1430968530 		1.000 0.120 9 6540102 stop gained T/A snv 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 1 2017 2017
dbSNP: rs1554643360
rs1554643360 		1.000 0.120 9 6550845 stop gained 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 1 2015 2015
dbSNP: rs1554646529
rs1554646529 		1.000 0.120 9 6587268 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 1.000 1 2017 2017
dbSNP: rs373618804
rs373618804 		1.000 0.120 9 6553508 stop gained T/A snv 4.0E-06 7.6E-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 1 2017 2017
dbSNP: rs570097430
rs570097430 		1.000 0.120 9 6602156 stop gained G/A;T 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 1.000 1 2017 2017
dbSNP: rs751025203
rs751025203 		1.000 0.120 9 6565392 stop gained G/A snv 4.0E-06 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 1 2017 2017
dbSNP: rs777365335
rs777365335 		1.000 0.120 9 6592910 stop gained C/A;G snv 2.8E-05 2.1E-05
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1477860542
rs1477860542 		1.000 0.120 9 6645477 stop gained C/A;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 0
dbSNP: rs1554643354
rs1554643354 		1.000 0.120 9 6550828 stop gained 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 0
dbSNP: rs1554652870
rs1554652870 		1.000 0.120 9 6645496 stop gained 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 0
dbSNP: rs386833537
rs386833537 		1.000 0.120 9 6558615 stop gained 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 0
dbSNP: rs386833541
rs386833541 		1.000 0.120 9 6556200 stop gained GAT/TAAACCAGGA delins
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: rs386833557
rs386833557 		1.000 0.120 9 6553411 stop gained 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 0
dbSNP: rs386833564
rs386833564 		1.000 0.120 9 6540142 stop gained A/C;G 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: rs386833567
rs386833567 		1.000 0.120 9 6540060 stop gained 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 0