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: 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: rs118203385
rs118203385 		1.000 0.120 9 132923383 missense variant A/C;G snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1323541164
rs1323541164 		1.000 0.120 9 132921834 missense variant A/C snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs118203682
rs118203682 		0.882 0.160 9 132902640 stop gained G/A snv
CUI: C1332852
Disease: Cardiac rhabdomyoma
Cardiac rhabdomyoma 		Neoplasms; Cardiovascular 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: rs1057518945
rs1057518945 		1.000 0.120 9 132921824 frameshift variant C/- delins
CUI: C1968959
Disease: Cortical tubers
Cortical tubers 		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
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: 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: 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: 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: 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: rs1060505021
rs1060505021 		1.000 0.080 9 132921872 missense variant G/A snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
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: rs118203427
rs118203427 		0.882 0.200 9 132921418 stop gained G/A snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs118203542
rs118203542 		0.851 0.200 9 132906053 stop gained G/A snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs118203631
rs118203631 		0.851 0.200 9 132903785 stop gained G/A snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1564488264
rs1564488264 		0.882 0.200 9 132911110 frameshift variant T/- del
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs118203682
rs118203682 		0.882 0.160 9 132902640 stop gained G/A snv
CUI: C0018552
Disease: Hamartoma
Hamartoma 		Neoplasms 0.700 0
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: 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: 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: rs118203388
rs118203388 		1.000 0.120 9 132923361 stop gained G/T snv
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0