Source: UNIPROT

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434427
rs121434427
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. 11220739

2001