rs45517132, TSC2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.700 CausalMutation CLINVAR Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. 26540169 2015
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.700 CausalMutation CLINVAR Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences. 11068191 2000
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
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