Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368778627
rs368778627
FLCN
T 0.700 CausalMutation CLINVAR Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X. 22068306

2012
dbSNP: rs368778627
rs368778627
FLCN
T 0.700 CausalMutation CLINVAR Novel mutations in the folliculin gene associated with spontaneous pneumothorax. 18579543

2008