rs368778627, 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 0.882 0.120 17 17222501 stop gained C/T snv 4.0E-06 0.700 1.000 2 2008 2012
PNEUMOTHORAX, PRIMARY SPONTANEOUS
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
12 0.882 0.120 17 17222501 stop gained C/T snv 4.0E-06 0.700 0