Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123168
rs398123168
FH
A 0.700 CausalMutation CLINVAR Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. 20618355

2011
dbSNP: rs398123168
rs398123168
FH
A 0.700 CausalMutation CLINVAR Structural basis of fumarate hydratase deficiency. 21445611

2011
dbSNP: rs398123168
rs398123168
FH
A 0.700 CausalMutation CLINVAR Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. 14632190

2003
dbSNP: rs398123168
rs398123168
FH
A 0.700 CausalMutation CLINVAR Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. 12772087

2003
dbSNP: rs398123168
rs398123168
FH
A 0.700 GeneticVariation CLINVAR