Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760267963
rs760267963
PYY ; NAGS
0.700 GeneticVariation UNIPROT Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. 27037498

2016
dbSNP: rs760267963
rs760267963
PYY ; NAGS
0.700 GeneticVariation UNIPROT Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. 15878741

2005
dbSNP: rs760267963
rs760267963
PYY ; NAGS
0.700 GeneticVariation UNIPROT Mutation analysis in patients with N-acetylglutamate synthase deficiency. 12754705

2003