rs80338682, MPRIP;FLCN

N. diseases: 3
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 0.925 0.080 17 17216395 frameshift variant G/-;GG delins 0.700 1.000 20 2002 2019
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
92 0.925 0.080 17 17216395 frameshift variant G/-;GG delins 0.700 1.000 7 2002 2015
PNEUMOTHORAX, PRIMARY SPONTANEOUS
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
15 0.925 0.080 17 17216395 frameshift variant G/-;GG delins 0.700 1.000 2 2002 2005