Gene: NDUFV1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135402749
rs1135402749
NDUFV1
C 0.710 CausalMutation CLINVAR

dbSNP: rs121913659
rs121913659
NDUFV1
T 0.700 CausalMutation CLINVAR Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. 26345448

2015
dbSNP: rs150966634
rs150966634
NDUFV1
T 0.700 GeneticVariation CLINVAR A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. 23562761

2013
dbSNP: rs150966634
rs150966634
NDUFV1
T 0.700 GeneticVariation CLINVAR Siblings with leukoencephalopathy. 19073330

2008
dbSNP: rs121913659
rs121913659
NDUFV1
T 0.700 CausalMutation CLINVAR Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174

1999
dbSNP: rs121913659
rs121913659
NDUFV1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs199683937
rs199683937
NDUFV1
C 0.700 CausalMutation CLINVAR

dbSNP: rs201727685
rs201727685
NDUFV1 ; C11orf72
C 0.700 GeneticVariation CLINVAR