Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833679
rs386833679
AMT ; NICN1
A 0.700 GeneticVariation CLINVAR The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. 27362913

2017
dbSNP: rs386833679
rs386833679
AMT ; NICN1
A 0.700 GeneticVariation CLINVAR Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. 16450403

2006
dbSNP: rs386833679
rs386833679
AMT ; NICN1
A 0.700 GeneticVariation CLINVAR Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update. 15272469

2004