Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517099
rs45517099
TSC2
T 0.700 CausalMutation CLINVAR Biallelic TSC gene inactivation in tuberous sclerosis complex. 20498439

2010
dbSNP: rs45517099
rs45517099
TSC2
T 0.700 CausalMutation CLINVAR Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. 20633017

2010
dbSNP: rs45517099
rs45517099
TSC2
T 0.700 CausalMutation CLINVAR [Analysis of gene mutations in two patients with tuberous sclerosis complex]. 17536269

2007
dbSNP: rs45517099
rs45517099
TSC2
T 0.700 CausalMutation CLINVAR Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. 16981987

2006
dbSNP: rs45517099
rs45517099
TSC2
T 0.700 CausalMutation CLINVAR TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. 12111193

2002
dbSNP: rs45517099
rs45517099
TSC2
T 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: rs45517099
rs45517099
TSC2
T 0.700 CausalMutation CLINVAR Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. 10735580

1999