Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Fumarase deficiency in dichorionic diamniotic twins. 24182348

2013
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene. 23612258

2013
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Molecular and biochemical investigations in fumarase deficiency. 16510303

2006
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. 15987702

2005
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Fumarase deficiency presenting with periventricular cysts. 16151915

2005
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293

1998
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. 9300800

1997
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 CausalMutation CLINVAR