Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 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