Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906422
rs387906422
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
0.800 GeneticVariation UNIPROT Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. 19188198

2009