TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
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: rs118203427
rs118203427 		0.882 0.200 9 132921418 stop gained G/A snv
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 6 1998 2005
dbSNP: rs118203342
rs118203342 		1.000 0.120 9 132927258 missense variant T/G snv 4.0E-06 7.0E-06
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 5 2013 2017
dbSNP: rs118203381
rs118203381 		1.000 0.120 9 132923459 missense variant C/A;T snv 8.0E-06
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 5 2013 2017
dbSNP: rs118203434
rs118203434 		0.925 0.120 9 132921367 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 1998 2016
dbSNP: rs118203434
rs118203434 		0.925 0.120 9 132921367 stop gained G/A snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 5 1998 2017
dbSNP: rs118203548
rs118203548 		1.000 0.120 9 132906011 missense variant C/G snv 4.8E-05 7.7E-05
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 5 2013 2017
dbSNP: rs118203564
rs118203564 		9 132905869 frameshift variant CT/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 1997 2008
dbSNP: rs118203670
rs118203670 		1.000 0.120 9 132902711 missense variant T/C snv 4.1E-04
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 5 2013 2017
dbSNP: rs118203721
rs118203721 		1.000 0.120 9 132897589 missense variant C/T snv 5.8E-05 1.2E-04
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 5 2013 2017
dbSNP: rs76801599
rs76801599 		1.000 0.120 9 132897540 missense variant G/C snv 5.2E-05
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 5 2013 2017
dbSNP: rs118203477
rs118203477 		9 132911493 frameshift variant AG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 1997 2007
dbSNP: rs118203478
rs118203478 		0.882 0.200 9 132911492 frameshift variant -/A;AA delins
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 4 1999 2017
dbSNP: rs118203537
rs118203537 		1.000 0.120 9 132906080 stop gained G/A snv
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 4 1999 2015
dbSNP: rs118203353
rs118203353 		1.000 0.120 9 132925740 splice acceptor variant C/A;T snv
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 3 1999 2007
dbSNP: rs118203372
rs118203372 		1.000 0.120 9 132925586 splice donor variant C/A;T snv
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 3 1999 2011
dbSNP: rs118203419
rs118203419 		1.000 0.120 9 132921818 splice donor variant C/T snv
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 3 1999 2011
dbSNP: rs118203423
rs118203423 		1.000 0.120 9 132921437 splice acceptor variant C/G;T snv
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 3 1999 2009
dbSNP: rs118203434
rs118203434 		0.925 0.120 9 132921367 stop gained G/A snv
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 3 1998 2017
dbSNP: rs118203478
rs118203478 		0.882 0.200 9 132911492 frameshift variant -/A;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 1999 2013
dbSNP: rs118203597
rs118203597 		1.000 0.120 9 132905673 frameshift variant GT/- delins
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 3 1997 2011
dbSNP: rs118203603
rs118203603 		1.000 0.120 9 132905618 frameshift variant -/T delins
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 3 2006 2011
dbSNP: rs118203707
rs118203707 		0.925 0.200 9 132900828 frameshift variant TTTG/- delins
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 3 1998 1999
dbSNP: rs1564490210
rs1564490210 		1.000 0.120 9 132912458 splice acceptor variant C/T snv
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 3 1999 2013
dbSNP: rs118203440
rs118203440 		1.000 0.120 9 132912459 splice acceptor variant T/A;C snv
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 2 1999 2007
dbSNP: rs118203550
rs118203550 		1.000 0.120 9 132905997 frameshift variant CT/- del
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 2 1997 1997