FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Fumarase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500903
rs1060500903
Entrez Id: 2271
Gene Symbol: FH
FH
CUI: C0342770
Disease:
Fumarase deficiency 		T 0.700 CausalMutation CLINVAR