TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: TUBEROUS SCLEROSIS 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203537
rs118203537
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		A 0.700 CausalMutation CLINVAR Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. 26540169 2015
dbSNP: rs118203537
rs118203537
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		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: rs118203537
rs118203537
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		A 0.700 CausalMutation CLINVAR Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. 10227394 1999
dbSNP: rs118203537
rs118203537
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		A 0.700 CausalMutation CLINVAR Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. 10533067 1999