Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756469140
rs756469140
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR An unusual case of sporadic hereditary leiomyomatosis and renal cell carcinoma syndrome. 25750977

2015

dbSNP: rs756469140
rs756469140
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. 24441663

2014

dbSNP: rs756469140
rs756469140
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. 15761418

2005

dbSNP: rs756469140
rs756469140
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. 15663510

2005

dbSNP: rs756469140
rs756469140
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. 14632190

2003