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: rs786202081
rs786202081 		1.000 0.080 17 17226323 splice acceptor variant C/T snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs876658409
rs876658409 		1.000 0.080 17 17223983 stop gained C/A;T snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs878855214
rs878855214 		1.000 0.080 17 17213858 splice acceptor variant T/C snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs878855218
rs878855218 		1.000 0.080 17 17221629 splice acceptor variant C/A;G snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs879255658
rs879255658 		0.882 0.160 17 17228135 start lost C/G snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs879255663
rs879255663 		1.000 0.080 17 17222528 stop gained C/T snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs879255667
rs879255667 		1.000 0.080 17 17221555 stop gained G/A snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs879255668
rs879255668 		1.000 0.080 17 17219206 stop gained A/C snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs879255672
rs879255672 		1.000 0.080 17 17217147 stop gained C/T snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs879255676
rs879255676 		1.000 0.080 17 17216379 splice donor variant C/T snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs879255682
rs879255682 		1.000 0.080 17 17214991 stop gained C/T snv
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
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
dbSNP: rs1060502368
rs1060502368 		1.000 0.080 17 17219060 frameshift variant G/- delins 7.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2005 2005