TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: TUBEROUS SCLEROSIS 2 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45483392
rs45483392
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.800 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869 2013
dbSNP: rs45483392
rs45483392
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs45483392
rs45483392
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. 10570911 1999