Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200004220
rs200004220
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Structural basis of fumarate hydratase deficiency. 21445611

2011
dbSNP: rs200004220
rs200004220
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. 21404119

2011
dbSNP: rs200004220
rs200004220
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: rs200004220
rs200004220
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Clinical and biochemical heterogeneity associated with fumarase deficiency. 21560188

2011
dbSNP: rs200004220
rs200004220
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. 15937070

2006