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: 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: rs1554821022
rs1554821022 		1.000 0.120 9 132928831 frameshift variant CAGCATGGCAAGAAGCTCC/TTG 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: rs749030456
rs749030456 		1.000 0.080 9 132928809 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2017 2017
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: rs1554820976
rs1554820976 		1.000 0.120 9 132928765 splice donor variant A/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: 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: 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: rs118203345
rs118203345 		1.000 0.120 9 132927229 missense variant 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 0.800 1.000 5 2013 2017
dbSNP: rs118203347
rs118203347 		1.000 0.120 9 132927208 missense variant T/C snv 7.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs118203352
rs118203352 		1.000 0.120 9 132925741 splice acceptor variant T/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 1 2005 2005
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: rs118203354
rs118203354 		1.000 0.120 9 132925735 missense variant A/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 1 2013 2013
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: 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: rs397514774
rs397514774 		1.000 0.120 9 132925625 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 2018 2018
dbSNP: rs118203368
rs118203368 		1.000 0.120 9 132925600 missense variant A/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 1 2013 2013
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: rs397514843
rs397514843 		1.000 0.120 9 132923480 missense variant C/T snv 2.0E-05 1.4E-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 9 1997 2013
dbSNP: rs1554819932
rs1554819932 		9 132923466 frameshift variant TG/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs397514784
rs397514784 		1.000 0.120 9 132923461 missense variant C/G;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 9 1997 2013
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: 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: rs118203384
rs118203384 		1.000 0.120 9 132923411 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 0