rs1031919395, FH

N. diseases: 1
Disease: Fumarase deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fumarase deficiency
CUI: C0342770
Disease: Fumarase deficiency
0.700 CausalMutation CLINVAR Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism. 27037871 2016
Fumarase deficiency
CUI: C0342770
Disease: Fumarase deficiency
0.700 CausalMutation CLINVAR Fumarase: a paradigm of dual targeting and dual localized functions. 21929734 2011