Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894705
rs104894705
NDUFS7
CUI: C4748752
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 		0.800 GeneticVariation UNIPROT Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. 10360771

1999
dbSNP: rs104894705
rs104894705
NDUFS7
CUI: C4748752
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 		0.800 GeneticVariation UNIPROT Human mitochondrial complex I in health and disease. 10330338

1999