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: rs397514806
rs397514806 		1.000 0.120 9 132896294 missense variant C/A;G 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 8 1997 2012
dbSNP: rs751398082
rs751398082 		1.000 0.040 9 132896322 missense variant A/T snv 7.0E-06
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs550526986
rs550526986 		1.000 0.040 9 132896452 missense variant C/G;T snv 4.0E-06
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs537585211
rs537585211 		1.000 0.120 9 132897194 missense variant C/A snv 2.0E-05 7.7E-05
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs397514859
rs397514859 		1.000 0.120 9 132897227 missense variant G/C;T snv 1.2E-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 8 1997 2012
dbSNP: rs1212768461
rs1212768461 		1.000 0.040 9 132897292 missense variant T/A;C snv 1.4E-05
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 1.000 2 2008 2012
dbSNP: rs1212768461
rs1212768461 		1.000 0.040 9 132897292 missense variant T/A;C snv 1.4E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs118203732
rs118203732 		1.000 0.120 9 132897520 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 0
dbSNP: rs397514871
rs397514871 		1.000 0.120 9 132897538 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 2 2005 2010
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: rs118203728
rs118203728 		1.000 0.120 9 132897544 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 2 1998 2002
dbSNP: rs118203728
rs118203728 		1.000 0.120 9 132897544 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 0
dbSNP: rs118203727
rs118203727 		9 132897547 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs118203726
rs118203726 		1.000 0.120 9 132897560 frameshift variant CT/- 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 1 1997 1997
dbSNP: rs118203724
rs118203724 		1.000 0.120 9 132897564 frameshift variant T/-;TT;TTT 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 1 2011 2011
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: rs118203717
rs118203717 		1.000 0.120 9 132897612 splice acceptor variant T/A;C;G 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: rs1564474974
rs1564474974 		1.000 0.120 9 132900774 frameshift variant CAACAGCTGCCTGTTCAAGAAC/- 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 0
dbSNP: rs118203711
rs118203711 		1.000 0.120 9 132900778 frameshift variant CAAC/- 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 1 2008 2008
dbSNP: rs1114167619
rs1114167619 		9 132900810 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1447417010
rs1447417010 		1.000 0.120 9 132900816 stop gained G/A;C snv 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 2 2013 2016
dbSNP: rs794727320
rs794727320 		1.000 0.120 9 132900822 frameshift variant CACT/- 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 1 2011 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: rs118203707
rs118203707 		0.925 0.200 9 132900828 frameshift variant TTTG/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs118203707
rs118203707 		0.925 0.200 9 132900828 frameshift variant TTTG/- delins
CUI: C1968959
Disease: Cortical tubers
Cortical tubers 		0.700 0