Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 9463313

1998
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations. 10607950

2000
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. 9302281

1997