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: rs753009073
rs753009073 		1.000 0.080 17 17213815 frameshift variant -/T ins 8.0E-06; 3.6E-05
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs398124538
rs398124538 		1.000 0.080 17 17223929 stop gained GC/TA mnv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2010 2010
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: rs878855212
rs878855212 		1.000 0.080 17 17228025 frameshift variant C/- del
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2005 2005
dbSNP: rs878855213
rs878855213 		1.000 0.080 17 17216461 frameshift variant T/- del
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1060502370
rs1060502370 		1.000 0.080 17 17227936 frameshift variant T/- del
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060502371
rs1060502371 		1.000 0.080 17 17227899 frameshift variant T/- del
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1135401752
rs1135401752 		1.000 0.080 17 17224107 frameshift variant C/- del
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1555608614
rs1555608614 		1.000 0.080 17 17219148 frameshift variant AG/- del
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs879255660
rs879255660 		1.000 0.080 17 17224087 frameshift variant C/- del
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs879255662
rs879255662 		1.000 0.080 17 17222542 frameshift variant ACTT/- del
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs879255666
rs879255666 		1.000 0.080 17 17221557 frameshift variant A/- del
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
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: 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: 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: 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: 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: 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: 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