Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894270
rs104894270
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C0029124
Disease:
Optic Atrophy
0.010 GeneticVariation BEFREE The combined mutation (T145I + R199W) in the subunit is reported to cause optic atrophy and Leigh syndrome accompanied by severe Complex-I deficiency. 24028823 2013
dbSNP: rs28939714
rs28939714
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C0029124
Disease:
Optic Atrophy
0.010 GeneticVariation BEFREE The combined mutation (T145I + R199W) in the subunit is reported to cause optic atrophy and Leigh syndrome accompanied by severe Complex-I deficiency. 24028823 2013