Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782216
rs587782216
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance. 22086304

2012
dbSNP: rs587782216
rs587782216
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. 20618355

2011
dbSNP: rs587782216
rs587782216
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR High-throughput structural biology of metabolic enzymes and its impact on human diseases. 21340633

2011
dbSNP: rs587782216
rs587782216
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Structural basis of fumarate hydratase deficiency. 21445611

2011
dbSNP: rs587782216
rs587782216
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene. 18514489

2008