Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786203218
rs786203218
FLCN
T 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017
dbSNP: rs786203218
rs786203218
FLCN
T 0.700 CausalMutation CLINVAR Familial pneumothoraces: Birt-Hogg-Dubé syndrome. 27906882

2016
dbSNP: rs786203218
rs786203218
FLCN
T 0.700 CausalMutation CLINVAR Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex. 22571569

2012
dbSNP: rs786203218
rs786203218
FLCN
T 0.700 CausalMutation CLINVAR Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. 22146830

2011
dbSNP: rs786203218
rs786203218
FLCN
T 0.700 CausalMutation CLINVAR Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability. 21538689

2011
dbSNP: rs786203218
rs786203218
FLCN
T 0.700 CausalMutation CLINVAR Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. 18505456

2008
dbSNP: rs786203218
rs786203218
FLCN
T 0.700 GeneticVariation CLINVAR