Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515746
rs397515746
TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		A 0.700 GeneticVariation CLINVAR Mutation characterization and genotype-phenotype correlation in Barth syndrome. 9345098

1997
dbSNP: rs397515746
rs397515746
TAZ
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		A 0.700 GeneticVariation CLINVAR X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. 1719174

1991