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: 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
dbSNP: rs1555608515
rs1555608515 		1.000 0.080 17 17219083 frameshift variant AG/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs727504645
rs727504645 		1.000 0.080 17 17224094 frameshift variant C/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2002 2002
dbSNP: rs1064792959
rs1064792959 		1.000 0.080 17 17224022 frameshift variant ATGATGCTGTACCAGC/CTGAT delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690837
rs1131690837 		1.000 0.080 17 17216466 frameshift variant -/A delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1555607179
rs1555607179 		1.000 0.080 17 17215243 frameshift variant TGGTCATCCTCACACCC/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1555607212
rs1555607212 		1.000 0.080 17 17215258 frameshift variant C/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1555608552
rs1555608552 		1.000 0.080 17 17219101 frameshift variant -/C delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1567807238
rs1567807238 		1.000 0.080 17 17215072 frameshift variant T/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1567816285
rs1567816285 		1.000 0.080 17 17221604 frameshift variant C/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1567822638
rs1567822638 		1.000 0.080 17 17226200 frameshift variant CCTGGCGG/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs398124525
rs398124525 		1.000 0.080 17 17216501 frameshift variant G/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs398124526
rs398124526 		1.000 0.080 17 17216476 frameshift variant -/G delins 4.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs398124527
rs398124527 		1.000 0.080 17 17215312 frameshift variant A/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs750146811
rs750146811 		0.925 0.080 17 17227900 frameshift variant CGAC/- delins 1.2E-05
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs757197845
rs757197845 		1.000 0.080 17 17215064 frameshift variant -/AATCTTAT delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs758385503
rs758385503 		1.000 0.080 17 17228089 frameshift variant G/-;GG delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs876658390
rs876658390 		1.000 0.080 17 17228079 frameshift variant A/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs876660611
rs876660611 		1.000 0.080 17 17227949 frameshift variant G/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs878855220
rs878855220 		1.000 0.080 17 17221580 frameshift variant A/TCT delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs878855221
rs878855221 		1.000 0.080 17 17219094 frameshift variant G/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs879255661
rs879255661 		1.000 0.080 17 17222647 frameshift variant CT/G delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs879255669
rs879255669 		1.000 0.080 17 17219153 frameshift variant -/T delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs879255670
rs879255670 		1.000 0.080 17 17219038 frameshift variant TGAAGACT/- delins
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0