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

2009
dbSNP: rs387906422
rs387906422
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
C 0.800 CausalMutation CLINVAR

dbSNP: rs28939711
rs28939711
COX15 ; CUTC
0.010 GeneticVariation BEFREE Mutations of COX15 causing single amino acid conversions associated with fatal infantile hypertrophic cardiomyopathy and the neurological disorder Leigh syndrome result in impaired stability (S344P) or catalytic function (R217W), and the latter mutation affects oligomeric properties of the enzyme. 26940873

2016
dbSNP: rs397514662
rs397514662
COX15 ; CUTC
0.010 GeneticVariation BEFREE Mutations of COX15 causing single amino acid conversions associated with fatal infantile hypertrophic cardiomyopathy and the neurological disorder Leigh syndrome result in impaired stability (S344P) or catalytic function (R217W), and the latter mutation affects oligomeric properties of the enzyme. 26940873

2016