rs398124533, FLCN

N. diseases: 2
Source: ALL
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.080 17 17226324 splice acceptor variant T/C snv 4.0E-06 0.700 1.000 1 2008 2008
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
92 1.000 0.080 17 17226324 splice acceptor variant T/C snv 4.0E-06 0.700 0