TSC2, TSC complex subunit 2, 7249

N. diseases: 72; N. variants: 287
Disease: TUBEROUS SCLEROSIS 2 (disorder) ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517214
rs45517214
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs45517214
rs45517214
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		G 0.800 CausalMutation CLINVAR