GSS, glutathione synthetase, 2937

N. diseases: 73; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909308
rs121909308
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. 8896573 1996
dbSNP: rs121909308
rs121909308
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. 27581854 2016
dbSNP: rs121909308
rs121909308
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. 9215686 1997
dbSNP: rs121909309
rs121909309
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. 27581854 2016
dbSNP: rs121909309
rs121909309
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. 9215686 1997
dbSNP: rs121909309
rs121909309
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. 8896573 1996
dbSNP: rs17310467
rs17310467
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C0919677
Disease:
Protein C measurement 		0.800 GeneticVariation GWASDB Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. 22443383 2012
dbSNP: rs17310467
rs17310467
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C1168438
Disease:
Protein C antigen measurement 		0.800 GeneticVariation GWASCAT Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. 22443383 2012
dbSNP: rs17310467
rs17310467
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C0919677
Disease:
Protein C measurement 		0.800 GeneticVariation GWASCAT Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. 22443383 2012
dbSNP: rs17310467
rs17310467
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C0919677
Disease:
Protein C measurement 		0.800 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs17310467
rs17310467
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C1168438
Disease:
Protein C antigen measurement 		0.800 GeneticVariation GWASDB Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. 22443383 2012
dbSNP: rs17310467
rs17310467
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C1168438
Disease:
Protein C antigen measurement 		0.800 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs28938472
rs28938472
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. 8896573 1996
dbSNP: rs28938472
rs28938472
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. 9215686 1997
dbSNP: rs28938472
rs28938472
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.800 GeneticVariation UNIPROT Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. 27581854 2016
dbSNP: rs1296000099
rs1296000099
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.700 GeneticVariation UNIPROT Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. 27581854 2016
dbSNP: rs1296000099
rs1296000099
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.700 GeneticVariation UNIPROT Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. 8896573 1996
dbSNP: rs1296000099
rs1296000099
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.700 GeneticVariation UNIPROT Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. 9215686 1997
dbSNP: rs13041792
rs13041792
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C1168438
Disease:
Protein C antigen measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs13041792
rs13041792
Entrez Id: 2937;57644
Gene Symbol: GSS;MYH7B
GSS;MYH7B
CUI: C0919677
Disease:
Protein C measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs1325986563
rs1325986563
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.700 GeneticVariation UNIPROT
dbSNP: rs1419704426
rs1419704426
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.700 GeneticVariation UNIPROT Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. 27581854 2016
dbSNP: rs1419704426
rs1419704426
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.700 GeneticVariation UNIPROT Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. 8896573 1996
dbSNP: rs1419704426
rs1419704426
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.700 GeneticVariation UNIPROT Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. 9215686 1997
dbSNP: rs148640446
rs148640446
Entrez Id: 2937
Gene Symbol: GSS
GSS
CUI: C0398746
Disease:
Gluthathione synthetase deficiency 		0.700 GeneticVariation UNIPROT