Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606897
rs267606897
CYTB ; ND5
A 0.700 CausalMutation CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045

2004
dbSNP: rs267606897
rs267606897
CYTB ; ND5
A 0.700 CausalMutation CLINVAR Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. 14730434

2004
dbSNP: rs267606897
rs267606897
CYTB ; ND5
A 0.700 CausalMutation CLINVAR Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. 14520659

2003
dbSNP: rs267606897
rs267606897
CYTB ; ND5
A 0.700 CausalMutation CLINVAR The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. 12624137

2003
dbSNP: rs267606897
rs267606897
CYTB ; ND5
A 0.700 CausalMutation CLINVAR The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. 10589546

1999
dbSNP: rs267606897
rs267606897
CYTB ; ND5
A 0.700 CausalMutation CLINVAR Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 9299505

1997