Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517686
rs1057517686
ATAD3A
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		T 0.700 GeneticVariation CLINVAR Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. 27640307

2016