Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517382
rs45517382
TSC2
G 0.800 CausalMutation CLINVAR The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. 9302281

1997
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
dbSNP: rs45517382
rs45517382
TSC2
0.800 GeneticVariation UNIPROT Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 8824881

1996