rs587782069, 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.
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
92 0.925 0.120 17 17224041 stop gained G/A snv 0.700 1.000 5 2013 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.120 17 17224041 stop gained G/A snv 0.700 1.000 5 2013 2018
Spontaneous pneumothorax
CUI: C0149781
Disease: Spontaneous pneumothorax
6 0.925 0.120 17 17224041 stop gained G/A snv 0.010 1.000 1 2013 2013