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: rs118203527
rs118203527 		1.000 0.120 9 132906735 frameshift variant CTTT/- 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 2007 2007
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: 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: 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: rs1564481122
rs1564481122 		1.000 0.120 9 132905729 frameshift variant G/- 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: rs1564504869
rs1564504869 		1.000 0.120 9 132928782 frameshift variant -/TTTAA 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 2018 2018
dbSNP: rs397514861
rs397514861 		1.000 0.120 9 132927265 frameshift variant T/- 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 1 1999 1999
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: rs1057518945
rs1057518945 		1.000 0.120 9 132921824 frameshift variant C/- delins
CUI: C1968959
Disease: Cortical tubers
Cortical tubers 		0.700 0
dbSNP: rs1057518945
rs1057518945 		1.000 0.120 9 132921824 frameshift variant C/- delins
CUI: C0265319
Disease: Fibrous skin tumor of tuberous sclerosis
Fibrous skin tumor of tuberous sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1060503210
rs1060503210 		1.000 0.120 9 132906060 frameshift variant G/- 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: rs1060503213
rs1060503213 		1.000 0.120 9 132903694 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 0
dbSNP: rs1064796237
rs1064796237 		1.000 0.120 9 132906781 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 0
dbSNP: rs1114167620
rs1114167620 		9 132921844 frameshift variant -/G delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs118203362
rs118203362 		1.000 0.120 9 132925673 frameshift variant -/T;TT 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: rs118203451
rs118203451 		9 132912382 frameshift variant AT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs118203478
rs118203478 		0.882 0.200 9 132911492 frameshift variant -/A;AA delins
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs118203478
rs118203478 		0.882 0.200 9 132911492 frameshift variant -/A;AA delins
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs118203478
rs118203478 		0.882 0.200 9 132911492 frameshift variant -/A;AA delins
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts 		0.700 0
dbSNP: rs118203544
rs118203544 		1.000 0.120 9 132906047 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 0
dbSNP: rs118203557
rs118203557 		1.000 0.120 9 132905876 frameshift variant TTTCATCAGCACTGCCGCAGGGC/-;TTTCATCAGCACTGCCGCAGGGCTTTCATCAGCACTGCCGCAGGGC 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: rs118203563
rs118203563 		1.000 0.120 9 132905881 frameshift variant G/- 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: rs118203645
rs118203645 		1.000 0.120 9 132903747 frameshift variant TA/- 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: 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