TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: TUBEROUS SCLEROSIS 2 (disorder) ×
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: rs45517138
rs45517138 		1.000 0.120 16 2058773 missense variant T/C snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 16 1996 2005
dbSNP: rs45517147
rs45517147 		1.000 0.120 16 2060776 missense variant T/C snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 16 1996 2005
dbSNP: rs45517153
rs45517153 		1.000 0.120 16 2060687 missense variant C/A;T snv 1.6E-05
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 16 1996 2005
dbSNP: rs45517156
rs45517156 		1.000 0.120 16 2061970 missense variant T/G snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 16 1996 2005
dbSNP: rs45517202
rs45517202 		1.000 0.120 16 2070535 missense variant A/G;T snv 4.0E-06
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 16 1996 2005
dbSNP: rs45517236
rs45517236 		1.000 0.120 16 2074291 missense variant C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 16 1996 2005
dbSNP: rs45517238
rs45517238 		1.000 0.120 16 2074320 missense variant C/A snv 6.8E-04 7.2E-04
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 16 1996 2005
dbSNP: rs45517355
rs45517355 		1.000 0.120 16 2085306 missense variant A/G snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 16 1996 2005
dbSNP: rs45517380
rs45517380 		1.000 0.120 16 2086810 missense variant A/G;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 16 1996 2005
dbSNP: rs45517381
rs45517381 		1.000 0.120 16 2086811 missense variant C/G;T snv 7.3E-05
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 16 1996 2005
dbSNP: rs45517383
rs45517383 		1.000 0.120 16 2086840 missense variant C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 16 1996 2005
dbSNP: rs45517413
rs45517413 		1.000 0.120 16 2088297 missense variant T/C snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 16 1996 2005
dbSNP: rs45517412
rs45517412 		0.882 0.200 16 2088293 missense variant C/G;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 11 1998 2016
dbSNP: rs45517169
rs45517169 		0.925 0.120 16 2062982 stop gained C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 9 1999 2017
dbSNP: rs45517099
rs45517099 		1.000 0.120 16 2053384 stop gained C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 7 1999 2010
dbSNP: rs137854175
rs137854175 		1.000 0.120 16 2084998 frameshift variant ACAA/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 6 1997 2011
dbSNP: rs137854218
rs137854218 		0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 6 1998 2013
dbSNP: rs45517179
rs45517179 		0.882 0.200 16 2064341 stop gained C/G;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 6 1996 2006
dbSNP: rs45517395
rs45517395 		0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 6 2007 2017
dbSNP: rs1064792923
rs1064792923 		1.000 0.120 16 2088461 frameshift variant TCCAACCCCAGCCTAC/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 5 1997 2015
dbSNP: rs45517150
rs45517150 		1.000 0.120 16 2060655 intron variant G/A snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 5 1999 2015
dbSNP: rs45517411
rs45517411 		1.000 0.120 16 2088286 stop gained G/A;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 5 1997 2015
dbSNP: rs137854128
rs137854128 		1.000 0.120 16 2074295 inframe deletion TCA/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 4 2005 2011
dbSNP: rs137854261
rs137854261 		1.000 0.120 16 2086791 inframe deletion AAG/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 4 2007 2013
dbSNP: rs137854331
rs137854331 		1.000 0.120 16 2086369 inframe deletion CAT/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 4 1998 2013