Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906873
rs387906873
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C4748796
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs387906873
rs387906873
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C4748796
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		0.800 GeneticVariation UNIPROT NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 21150889 2011
dbSNP: rs1057519414
rs1057519414
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C4748796
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1057519414
rs1057519414
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C4748796
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		0.800 GeneticVariation UNIPROT
dbSNP: rs387906873
rs387906873
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C4748796
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057519415
rs1057519415
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C4748796
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		AATT 0.700 CausalMutation CLINVAR
dbSNP: rs387906872
rs387906872
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C4748796
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 		C 0.700 CausalMutation CLINVAR