Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150966634
rs150966634
NDUFV1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 GeneticVariation CLINVAR A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. 23562761

2013
dbSNP: rs150966634
rs150966634
NDUFV1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 GeneticVariation CLINVAR Siblings with leukoencephalopathy. 19073330

2008