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: rs118203426
rs118203426 		1.000 0.120 9 132921429 missense variant A/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 0.800 1.000 1 2013 2013
dbSNP: rs118203468
rs118203468 		1.000 0.120 9 132912282 missense 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 1 2013 2013
dbSNP: rs397514842
rs397514842 		1.000 0.120 9 132904410 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 1 2013 2013
dbSNP: rs118203380
rs118203380 		1.000 0.120 9 132923450 frameshift variant ACACCAAGACGC/TG 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: rs118203647
rs118203647 		1.000 0.120 9 132903728 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 1 2011 2011
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: rs1301051974
rs1301051974 		0.925 0.120 9 132905820 synonymous variant A/G snv 4.0E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1301051974
rs1301051974 		0.925 0.120 9 132905820 synonymous variant A/G snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1301051974
rs1301051974 		0.925 0.120 9 132905820 synonymous variant A/G snv 4.0E-06
CUI: C0035411
Disease: Rhabdomyoma
Rhabdomyoma 		Neoplasms 0.010 1.000 1 2011 2011
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: rs7874234
rs7874234 		0.882 0.040 9 132937614 intron variant C/T snv 0.25
CUI: C1176475
Disease: Ductal Carcinoma
Ductal Carcinoma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs7874234
rs7874234 		0.882 0.040 9 132937614 intron variant C/T snv 0.25
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		0.010 1.000 1 2011 2011
dbSNP: rs7874234
rs7874234 		0.882 0.040 9 132937614 intron variant C/T snv 0.25
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2011 2011
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: rs118203436
rs118203436 		1.000 0.120 9 132921363 missense 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 0.800 1.000 8 2009 2017
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: 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: 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: rs1320206988
rs1320206988 		1.000 0.040 9 132910585 missense variant T/A snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1320206988
rs1320206988 		1.000 0.040 9 132910585 missense variant T/A snv
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs118203360
rs118203360 		1.000 0.120 9 132925678 frameshift variant AG/- 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: rs118203474
rs118203474 		1.000 0.120 9 132911509 stop gained G/A;C snv 4.0E-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 1 2007 2007
dbSNP: rs118203479
rs118203479 		1.000 0.120 9 132911492 frameshift variant CA/- 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 2007 2007
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: 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