GSS, glutathione synthetase, 2937

N. diseases: 73; N. variants: 20
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: rs121909308
rs121909308 		1.000 0.080 20 34935611 missense variant G/A snv 1.2E-05
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 1996 2016
dbSNP: rs121909309
rs121909309 		1.000 0.080 20 34932121 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 1996 2016
dbSNP: rs28938472
rs28938472 		0.925 0.080 20 34936976 stop lost T/C;G snv 4.0E-06; 4.0E-06
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 1996 2016
dbSNP: rs17310467
rs17310467 		20 34957813 intron variant A/G;T snv
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.800 1.000 2 2010 2012
dbSNP: rs17310467
rs17310467 		20 34957813 intron variant A/G;T snv
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.800 1.000 2 2010 2012
dbSNP: rs121909307
rs121909307 		1.000 0.080 20 34942488 missense variant C/T snv 3.2E-05 4.2E-05
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1996 2015
dbSNP: rs1296000099
rs1296000099 		1.000 0.080 20 34932111 missense variant A/T snv 8.0E-06
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1996 2016
dbSNP: rs1419704426
rs1419704426 		1.000 0.080 20 34928846 missense variant G/T snv 4.0E-06
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1996 2016
dbSNP: rs2273684
rs2273684 		1.000 0.040 20 34941963 intron variant T/G snv 0.52
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 3 2019 2019
dbSNP: rs1555889738
rs1555889738 		1.000 0.080 20 34955722 splice region variant C/T snv
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2003 2005
dbSNP: rs13041792
rs13041792 		20 34957252 intron variant G/A snv 0.19
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs13041792
rs13041792 		20 34957252 intron variant G/A snv 0.19
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs17309872
rs17309872 		0.925 0.080 20 34927985 downstream gene variant A/C;G;T snv
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs17309872
rs17309872 		0.925 0.080 20 34927985 downstream gene variant A/C;G;T snv
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2025096
rs2025096 		20 34952197 5 prime UTR variant G/A snv 0.19
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2025096
rs2025096 		20 34952197 5 prime UTR variant G/A snv 0.19
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2025096
rs2025096 		20 34952197 5 prime UTR variant G/A snv 0.19
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		0.700 1.000 1 2016 2016
dbSNP: rs2236270
rs2236270 		20 34935352 intron variant G/T snv 0.33
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2236270
rs2236270 		20 34935352 intron variant G/T snv 0.33
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2273684
rs2273684 		1.000 0.040 20 34941963 intron variant T/G snv 0.52
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs6060124
rs6060124 		1.000 0.080 20 34949094 intron variant C/A snv 0.27
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs752560204
rs752560204 		1.000 0.080 20 34951849 frameshift variant C/- delins 2.3E-04 1.7E-04
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1996 1996
dbSNP: rs1325986563
rs1325986563 		1.000 0.080 20 34935601 missense variant T/C snv 4.0E-06
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs148640446
rs148640446 		1.000 0.080 20 34931980 missense variant G/A snv 1.3E-03 1.3E-03
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs28936396
rs28936396 		1.000 0.080 20 34942606 missense variant G/A snv 5.2E-05 2.8E-04
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0