rs879255664, FLCN

N. diseases: 4
Disease: Kidney Neoplasm ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Kidney Neoplasm
CUI: C0022665
Disease: Kidney Neoplasm
0.010 GeneticVariation BEFREE Germline H255Y and K508R missense mutations in the folliculin (FLCN) gene have been identified in patients with bilateral multifocal (BMF) kidney tumours and clinical manifestations of Birt-Hogg-Dubé (BHD) syndrome, or with BMF kidney tumours as the only manifestation; however, their impact on FLCN function remains to be determined. 28007907 2017