TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518945
rs1057518945
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0265319
Disease:
Fibrous skin tumor of tuberous sclerosis 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518945
rs1057518945
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1968959
Disease:
Cortical tubers 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519319
rs1057519319
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1060503210
rs1060503210
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060503213
rs1060503213
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1060503224
rs1060503224
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1060505021
rs1060505021
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 GeneticVariation UNIPROT Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017
dbSNP: rs1064794132
rs1064794132
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1064794132
rs1064794132
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1064796237
rs1064796237
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs1114167619
rs1114167619
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1114167620
rs1114167620
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		AG 0.700 CausalMutation CLINVAR
dbSNP: rs118203342
rs118203342
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.700 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs118203342
rs118203342
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.700 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs118203342
rs118203342
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs118203342
rs118203342
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.700 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs118203342
rs118203342
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs118203345
rs118203345
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs118203345
rs118203345
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs118203345
rs118203345
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs118203345
rs118203345
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs118203345
rs118203345
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs118203345
rs118203345
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs118203347
rs118203347
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0005695
Disease:
Bladder Neoplasm 		0.700 GeneticVariation UNIPROT
dbSNP: rs118203352
rs118203352
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		G 0.700 CausalMutation CLINVAR Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. 15798777 2005