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: 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: 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: 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: 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: 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: 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: 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: rs1131690840
rs1131690840 		1.000 0.080 17 17222662 splice acceptor variant C/T snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2005 2005
dbSNP: rs1490424623
rs1490424623 		1.000 0.080 17 17219194 stop gained G/C snv 4.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2010 2010
dbSNP: rs1567819834
rs1567819834 		1.000 0.080 17 17224030 stop gained G/T snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2011 2011
dbSNP: rs398124524
rs398124524 		1.000 0.080 17 17217128 stop gained G/A;T snv 4.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs398124528
rs398124528 		1.000 0.080 17 17215092 splice acceptor variant T/C;G snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2005 2005
dbSNP: rs398124536
rs398124536 		1.000 0.080 17 17226226 stop gained G/A;T snv 5.6E-05
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2008 2008
dbSNP: rs876657646
rs876657646 		1.000 0.080 17 17223987 missense variant A/G;T snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs879255664
rs879255664 		0.882 0.200 17 17222517 missense variant G/A snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs886039370
rs886039370 		1.000 0.080 17 17219017 splice donor variant A/C;G snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2005 2005
dbSNP: rs1060502369
rs1060502369 		1.000 0.080 17 17227888 splice donor variant C/A snv
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1254608489
rs1254608489 		1.000 0.080 17 17228017 stop gained G/A;C snv 7.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1266098984
rs1266098984 		1.000 0.080 17 17216380 stop gained C/A;G snv 4.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs398124533
rs398124533 		1.000 0.080 17 17226324 splice acceptor variant T/C snv 4.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs558699420
rs558699420 		1.000 0.080 17 17222646 stop gained G/A;T snv 1.2E-05
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs754616167
rs754616167 		1.000 0.080 17 17228105 stop gained G/A;T snv 1.2E-05
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0