Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1207147043
rs1207147043
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia
A 0.700 GeneticVariation CLINVAR The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. 27362913 2017
dbSNP: rs1207147043
rs1207147043
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia
A 0.700 GeneticVariation CLINVAR Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. 26179960 2015