Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
G 0.700 CausalMutation CLINVAR Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. 15372523

2004

dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
G 0.700 CausalMutation CLINVAR Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 11085913

2001