Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553341046
rs1553341046
FH
C 0.800 GeneticVariation CLINVAR Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293

1998
dbSNP: rs1553341046
rs1553341046
FH
0.800 GeneticVariation UNIPROT Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293

1998
dbSNP: rs1031919395
rs1031919395
FH
T 0.700 CausalMutation CLINVAR Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism. 27037871

2016
dbSNP: rs1031919395
rs1031919395
FH
T 0.700 CausalMutation CLINVAR Fumarase: a paradigm of dual targeting and dual localized functions. 21929734

2011
dbSNP: rs1057517734
rs1057517734
FH
A 0.700 GeneticVariation CLINVAR Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 11865300

2002
dbSNP: rs1057517734
rs1057517734
FH
A 0.700 GeneticVariation CLINVAR Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. 21398687

2011
dbSNP: rs1057524385
rs1057524385
FH
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499630
rs1060499630
FH
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060499641
rs1060499641
FH
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060499642
rs1060499642
FH
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500883
rs1060500883
FH
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060500896
rs1060500896
FH
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060500896
rs1060500896
FH
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060500900
rs1060500900
FH
AG 0.700 CausalMutation CLINVAR Fumarase: a paradigm of dual targeting and dual localized functions. 21929734

2011
dbSNP: rs1060500900
rs1060500900
FH
AG 0.700 CausalMutation CLINVAR Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism. 27037871

2016
dbSNP: rs1060500900
rs1060500900
FH
AG 0.700 CausalMutation CLINVAR Isolated cutaneous leiomyosarcoma revealing a novel germline mutation of the fumarate hydratase gene. 25913776

2016
dbSNP: rs1060500901
rs1060500901
FH
G 0.700 CausalMutation CLINVAR Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. 21398687

2011
dbSNP: rs1060500901
rs1060500901
FH
G 0.700 CausalMutation CLINVAR Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers. 28300276

2017
dbSNP: rs1060500901
rs1060500901
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: rs1060500901
rs1060500901
FH
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500903
rs1060500903
FH
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060500904
rs1060500904
FH
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060500907
rs1060500907
FH
A 0.700 CausalMutation CLINVAR Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293

1998
dbSNP: rs1060500907
rs1060500907
FH
A 0.700 CausalMutation CLINVAR Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. 21398687

2011
dbSNP: rs1064796708
rs1064796708
FH
C 0.700 CausalMutation CLINVAR