Gene: TSC1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203682
rs118203682
TSC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs118203707
rs118203707
TSC1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1301051974
rs1301051974
TSC1
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