Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937590
rs28937590
BCS1L ; ZNF142
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		G 0.700 CausalMutation CLINVAR The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy. 21274865

2011
dbSNP: rs28937590
rs28937590
BCS1L ; ZNF142
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		G 0.700 CausalMutation CLINVAR GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. 12215968

2002