FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Disease: Multiple fibrofolliculomas ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199643834
rs199643834 		0.827 0.200 17 17215000 missense variant T/C snv 1.9E-04 1.7E-04
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.710 1.000 3 2013 2017
dbSNP: rs80338682
rs80338682 		0.925 0.080 17 17216395 frameshift variant G/-;GG delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 2002 2015
dbSNP: rs1064793128
rs1064793128 		1.000 0.080 17 17215237 frameshift variant GA/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2005 2017
dbSNP: rs398124530
rs398124530 		1.000 0.080 17 17214990 stop gained C/T snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2005 2015
dbSNP: rs767671406
rs767671406 		1.000 0.080 17 17216506 splice region variant GGA/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2010 2017
dbSNP: rs786203218
rs786203218 		0.925 0.080 17 17224069 inframe deletion AAG/- delins 4.0E-06 7.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2008 2017
dbSNP: rs398124532
rs398124532 		1.000 0.080 17 17213798 stop gained G/A;C snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2006 2012
dbSNP: rs398124541
rs398124541 		1.000 0.080 17 17219188 frameshift variant TTCT/- delins 8.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2008 2016
dbSNP: rs587782069
rs587782069 		0.925 0.120 17 17224041 stop gained G/A snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2013 2016
dbSNP: rs879255678
rs879255678 		0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2005 2017
dbSNP: rs879255679
rs879255679 		1.000 0.080 17 17215032 frameshift variant -/ACAG delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2005 2015
dbSNP: rs879255683
rs879255683 		1.000 0.080 17 17213816 stop gained G/A snv 1.4E-05
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2005 2015
dbSNP: rs758175953
rs758175953 		0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2005 2012
dbSNP: rs137852929
rs137852929 		0.925 0.080 17 17215228 stop gained G/A;C;T snv 6.0E-05
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2002 2008
dbSNP: rs398124542
rs398124542 		0.925 0.080 17 17219126 frameshift variant -/GTACTCTCTGGCAACACAGGGGCTTTCT delins 4.0E-05
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2002 2016
dbSNP: rs755959303
rs755959303 		1.000 0.080 17 17215184 splice donor variant C/G;T snv 4.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2005 2016
dbSNP: rs776896550
rs776896550 		1.000 0.080 17 17226224 frameshift variant -/T delins 4.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2008 2013
dbSNP: rs1555607273
rs1555607273 		1.000 0.080 17 17215299 frameshift variant C/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2014 2018
dbSNP: rs368778627
rs368778627 		0.882 0.120 17 17222501 stop gained C/T snv 4.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2008 2012
dbSNP: rs398124529
rs398124529 		1.000 0.080 17 17214999 inframe deletion CTT/- del 4.0E-06 7.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2011 2013
dbSNP: rs398124534
rs398124534 		1.000 0.080 17 17226276 frameshift variant T/- del
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2005 2008
dbSNP: rs398124535
rs398124535 		1.000 0.080 17 17226252 frameshift variant AC/GTG delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2008 2011
dbSNP: rs864622651
rs864622651 		1.000 0.080 17 17216428 frameshift variant G/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2008 2014
dbSNP: rs878855217
rs878855217 		1.000 0.080 17 17223956 frameshift variant C/- delins 7.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2005 2008
dbSNP: rs879255677
rs879255677 		1.000 0.080 17 17215282 frameshift variant -/GCGGCTGCGTGGACCTC delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2008 2010