Source: CLINVAR

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: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		G 0.700 CausalMutation CLINVAR Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 11085913

2001
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
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		G 0.700 CausalMutation CLINVAR Infantile encephalopathy associated with the MELAS A3243G mutation. 10356136

1999
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0342289
Disease: Diabetes-deafness syndrome maternally transmitted (disorder)
Diabetes-deafness syndrome maternally transmitted (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME 		G 0.700 CausalMutation CLINVAR

dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		G 0.700 CausalMutation CLINVAR

dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		G 0.700 CausalMutation CLINVAR

dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		G 0.700 CausalMutation CLINVAR

dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		G 0.700 CausalMutation CLINVAR

dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C1838818
Disease: MUSCLE STIFFNESS, PAINFUL
MUSCLE STIFFNESS, PAINFUL 		G 0.700 CausalMutation CLINVAR

dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		G 0.700 CausalMutation CLINVAR

dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR

dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0152164
Disease: Cyclical vomiting syndrome (disorder)
Cyclical vomiting syndrome (disorder) 		G 0.700 CausalMutation CLINVAR