TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Seizures ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203682
rs118203682
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0036572
Disease:
Seizures 		A 0.700 CausalMutation CLINVAR
dbSNP: rs118203707
rs118203707
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0036572
Disease:
Seizures 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1301051974
rs1301051974
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0036572
Disease:
Seizures 		0.010 GeneticVariation BEFREE We report an infant who presented with seizures and cardiac rhabdomyomas and whose diagnosis of TS was confirmed by a TSC2 C1605T nonsense mutation. 21418539 2011