Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203564
rs118203564
TSC1
C 0.700 CausalMutation CLINVAR Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. 18032745

2008
dbSNP: rs118203564
rs118203564
TSC1
C 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: rs118203564
rs118203564
TSC1
C 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: rs118203564
rs118203564
TSC1
C 0.700 CausalMutation CLINVAR Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. 9924605

1998
dbSNP: rs118203564
rs118203564
TSC1
C 0.700 CausalMutation CLINVAR Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 9242607

1997