Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606913
rs267606913
Entrez Id: 4726
Gene Symbol: NDUFS6
NDUFS6
CUI: C4748767
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 		0.800 GeneticVariation UNIPROT Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews. 19259137 2009
dbSNP: rs267606913
rs267606913
Entrez Id: 4726
Gene Symbol: NDUFS6
NDUFS6
CUI: C4748767
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 		0.800 GeneticVariation UNIPROT NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. 15372108 2004
dbSNP: rs267606913
rs267606913
Entrez Id: 4726
Gene Symbol: NDUFS6
NDUFS6
CUI: C4748767
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1561102614
rs1561102614
Entrez Id: 4726;64979
Gene Symbol: NDUFS6;MRPL36
NDUFS6;MRPL36
CUI: C4748767
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 		A 0.700 CausalMutation CLINVAR