rs398124535, FLCN

N. diseases: 2
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
88 1.000 0.080 17 17226252 frameshift variant AC/GTG delins 0.700 1.000 2 2008 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 1.000 0.080 17 17226252 frameshift variant AC/GTG delins 0.700 1.000 1 2008 2008