rs758175953, FLCN

N. diseases: 6
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 0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 0.700 1.000 4 2005 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 0.700 1.000 3 2008 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 0.700 0
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 0.700 0
PNEUMOTHORAX, PRIMARY SPONTANEOUS
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
15 0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 0.700 0
Potocki-Lupski syndrome
CUI: C2931246
Disease: Potocki-Lupski syndrome
2 0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 0.700 0