Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203542
rs118203542
TSC1
A 0.700 CausalMutation CLINVAR TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex. 25900779

2015
dbSNP: rs118203542
rs118203542
TSC1
A 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs118203542
rs118203542
TSC1
A 0.700 CausalMutation CLINVAR Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. 20547222

2010
dbSNP: rs118203542
rs118203542
TSC1
A 0.700 CausalMutation CLINVAR Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. 16981987

2006
dbSNP: rs118203542
rs118203542
TSC1
A 0.700 CausalMutation CLINVAR Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 11112665

2001
dbSNP: rs118203542
rs118203542
TSC1
A 0.700 CausalMutation CLINVAR Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. 9924605

1998
dbSNP: rs118203542
rs118203542
TSC1
A 0.700 CausalMutation CLINVAR Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis. 9863590

1998
dbSNP: rs118203542
rs118203542
TSC1
A 0.700 CausalMutation CLINVAR Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 9242607

1997