rs879255678, FLCN;MPRIP

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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 1.000 6 2005 2017
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
92 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 1.000 5 2005 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 0
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 0
PNEUMOTHORAX, PRIMARY SPONTANEOUS
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
15 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 0
Potocki-Lupski syndrome
CUI: C2931246
Disease: Potocki-Lupski syndrome
2 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 0