Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517216
rs45517216
TSC2
T 0.700 CausalMutation CLINVAR Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. 28968464

2017
dbSNP: rs45517216
rs45517216
TSC2
T 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