rs199476143, ND1;TRNV

N. diseases: 2
Disease: MELAS Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
0.700 CausalMutation CLINVAR Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. 20064630 2010
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
0.700 CausalMutation CLINVAR Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA. 12056939 2002
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
0.700 CausalMutation CLINVAR A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation. 9450773 1998