TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: Seizures ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517281
rs45517281
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0036572
Disease:
Seizures 		0.010 GeneticVariation BEFREE Mutational analysis of TSC2 indicated the presence of the novel missense change 3106T-->C, 1036S-->P in all family members with seizures. 12913212 2003