Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434473
rs121434473
ND4 ; ND5 ; TRNH
CUI: C4016611
Disease: PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS
PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121434474
rs121434474
ND4 ; ND5 ; TRNH
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		A 0.700 CausalMutation CLINVAR Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene. 15111688

2004
dbSNP: rs121434474
rs121434474
ND4 ; ND5 ; TRNH
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		A 0.700 CausalMutation CLINVAR Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. 14967777

2004
dbSNP: rs121434474
rs121434474
ND4 ; ND5 ; TRNH
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME 		A 0.700 CausalMutation CLINVAR