TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749030456
rs749030456
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 GeneticVariation UNIPROT Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017
dbSNP: rs749030456
rs749030456
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		A 0.800 CausalMutation CLINVAR