Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135402749
rs1135402749
NDUFV1
0.710 GeneticVariation BEFREE Mapping the variants on published crystal structures of mitochondrial complex I demonstrate that the novel c.1118T > C (p.(Phe373Ser)) variant is predicted to diminish the affinity of the active pocket of NDUFV1 for FMN that correlates to an early onset of debilitating MCID symptoms. 29976978

2018
dbSNP: rs1135402749
rs1135402749
NDUFV1
C 0.710 CausalMutation CLINVAR