rs786203218, FLCN

N. diseases: 3
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.925 0.080 17 17224069 inframe deletion AAG/- delins 4.0E-06 7.0E-06 0.700 1.000 7 2008 2016
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
88 0.925 0.080 17 17224069 inframe deletion AAG/- delins 4.0E-06 7.0E-06 0.700 1.000 6 2008 2017
PNEUMOTHORAX, PRIMARY SPONTANEOUS
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
12 0.925 0.080 17 17224069 inframe deletion AAG/- delins 4.0E-06 7.0E-06 0.700 0