Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150667550
rs150667550
C 0.700 GeneticVariation CLINVAR Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity. 24215330

2013

dbSNP: rs150667550
rs150667550
C 0.700 GeneticVariation CLINVAR The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. 20819849

2010