TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: TUBEROUS SCLEROSIS 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564504869
rs1564504869
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		CTTTAA 0.700 CausalMutation CLINVAR Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation. 28762286 2018