Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124308
rs398124308
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
CUI: C1838979
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY 		GGAGT 0.700 GeneticVariation CLINVAR Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 22200994 2012
dbSNP: rs373075574
rs373075574
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
CUI: C1838979
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs536400690
rs536400690
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
CUI: C1838979
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation CLINVAR