Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913122
rs121913122
FH
A 0.700 CausalMutation CLINVAR Hereditary leiomyomatosis associated with renal cell carcinoma. 25477250

2015
dbSNP: rs121913122
rs121913122
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: rs121913122
rs121913122
FH
A 0.700 CausalMutation CLINVAR Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. 21404119

2011
dbSNP: rs121913122
rs121913122
FH
A 0.700 CausalMutation CLINVAR The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. 16288654

2005
dbSNP: rs121913122
rs121913122
FH
A 0.700 CausalMutation CLINVAR Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 11865300

2002