Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761957837
rs761957837
GLDC
0.700 GeneticVariation UNIPROT Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. 28244183

2017
dbSNP: rs761957837
rs761957837
GLDC
0.700 GeneticVariation UNIPROT Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report. 28737873

2017
dbSNP: rs761957837
rs761957837
GLDC
0.700 GeneticVariation UNIPROT Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. 11592811

2001
dbSNP: rs761957837
rs761957837
GLDC
0.700 GeneticVariation UNIPROT Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). 11286506

2001
dbSNP: rs761957837
rs761957837
GLDC
0.700 GeneticVariation UNIPROT Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. 1634607

1992
dbSNP: rs761957837
rs761957837
GLDC
0.700 GeneticVariation UNIPROT Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia. 1996985

1991