rs398124541, 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 17219188 frameshift variant TTCT/- delins 8.0E-06 0.700 1.000 5 2008 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 1.000 0.080 17 17219188 frameshift variant TTCT/- delins 8.0E-06 0.700 1.000 4 2008 2016