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: rs118203490
rs118203490 		1.000 0.120 9 132911103 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 0.010 1.000 1 2019 2019
dbSNP: rs118203542
rs118203542 		0.851 0.200 9 132906053 stop gained G/A snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs118203673
rs118203673 		0.925 0.160 9 132902703 stop gained G/A snv
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs118203673
rs118203673 		0.925 0.160 9 132902703 stop gained G/A snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
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: 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: 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: rs185159716
rs185159716 		1.000 0.120 9 132906751 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 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: 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: 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: 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: rs865808591
rs865808591 		1.000 0.120 9 132904435 missense variant A/G snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 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: rs397514800
rs397514800 		1.000 0.120 9 132903782 missense variant C/G snv 4.0E-06 2.1E-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 13 1997 2017
dbSNP: rs397514814
rs397514814 		1.000 0.120 9 132901660 missense variant G/A;C snv 4.0E-06; 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 13 1997 2017
dbSNP: rs397514840
rs397514840 		1.000 0.120 9 132910603 missense variant G/A;T 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 13 1997 2017
dbSNP: rs77464996
rs77464996 		1.000 0.120 9 132910584 missense variant G/A;T snv 2.4E-05; 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 13 1997 2017
dbSNP: rs118203631
rs118203631 		0.851 0.200 9 132903785 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 10 1997 2015
dbSNP: rs118203403
rs118203403 		1.000 0.120 9 132921910 missense variant A/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 9 1997 2013