Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913123
rs121913123
FH
T 0.700 CausalMutation CLINVAR Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. 22127509

2012
dbSNP: rs121913123
rs121913123
FH
T 0.700 CausalMutation CLINVAR Structural basis of fumarate hydratase deficiency. 21445611

2011
dbSNP: rs121913123
rs121913123
FH
T 0.700 CausalMutation CLINVAR Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. 20618355

2011
dbSNP: rs121913123
rs121913123
FH
T 0.700 CausalMutation CLINVAR "A cancer-predisposing ""hot spot"" mutation of the fumarase gene creates a dominant negative protein." 17960613

2008
dbSNP: rs121913123
rs121913123
FH
T 0.700 CausalMutation CLINVAR Differential metabolic consequences of fumarate hydratase and respiratory chain defects. 18313410

2008
dbSNP: rs121913123
rs121913123
FH
T 0.700 CausalMutation CLINVAR Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. 15937070

2006
dbSNP: rs121913123
rs121913123
FH
T 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: rs121913123
rs121913123
FH
T 0.700 CausalMutation CLINVAR Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 11865300

2002