TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203434
rs118203434
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth. 27470532 2016
dbSNP: rs118203434
rs118203434
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 17304050 2007
dbSNP: rs118203434
rs118203434
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 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
dbSNP: rs118203434
rs118203434
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects. 10533066 1999
dbSNP: rs118203434
rs118203434
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. 10363127 1998