Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758175953
rs758175953
FLCN
A 0.700 CausalMutation CLINVAR Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. 23050938

2012
dbSNP: rs758175953
rs758175953
FLCN
A 0.700 CausalMutation CLINVAR [Birt-Hogg-Dubé syndrome: an update]. 21937013

2012
dbSNP: rs758175953
rs758175953
FLCN
A 0.700 CausalMutation CLINVAR BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. 18234728

2008
dbSNP: rs758175953
rs758175953
FLCN
A 0.700 CausalMutation CLINVAR Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 15852235

2005
dbSNP: rs758175953
rs758175953
FLCN
A 0.700 GeneticVariation CLINVAR