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: rs118203631
rs118203631
0.851 0.200 9 132903785 stop gained G/A snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 9 1997 2017
dbSNP: rs118203434
rs118203434
0.925 0.120 9 132921367 stop gained G/A snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 5 1998 2017
dbSNP: rs1064794132
rs1064794132
1.000 0.120 9 132903649 splice donor variant A/T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1554815914
rs1554815914
1.000 0.120 9 132905874 frameshift variant TCCCGCA/GC delins
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
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: 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: 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: 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: 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