Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913121
rs121913121
FH
G 0.700 CausalMutation CLINVAR Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. 26900816

2016
dbSNP: rs121913121
rs121913121
FH
G 0.700 CausalMutation CLINVAR Hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a rapid autopsy report of metastatic renal cell carcinoma. 24625422

2014
dbSNP: rs121913121
rs121913121
FH
G 0.700 CausalMutation CLINVAR Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome. 23211287

2013
dbSNP: rs121913121
rs121913121
FH
G 0.700 CausalMutation CLINVAR Structural basis of fumarate hydratase deficiency. 21445611

2011
dbSNP: rs121913121
rs121913121
FH
G 0.700 CausalMutation CLINVAR Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status. 21630274

2011
dbSNP: rs121913121
rs121913121
FH
G 0.700 CausalMutation CLINVAR Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis. 19939761

2010
dbSNP: rs121913121
rs121913121
FH
G 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: rs121913121
rs121913121
FH
G 0.700 CausalMutation CLINVAR Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. 16757530

2006
dbSNP: rs121913121
rs121913121
FH
G 0.700 CausalMutation CLINVAR Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. 16029320

2005
dbSNP: rs121913121
rs121913121
FH
G 0.700 CausalMutation CLINVAR Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. 12761039

2003
dbSNP: rs121913121
rs121913121
FH
G 0.700 CausalMutation CLINVAR Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 11865300

2002
dbSNP: rs121913121
rs121913121
FH
G 0.700 GeneticVariation CLINVAR