TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: TUBEROUS SCLEROSIS 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203426
rs118203426
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs118203426
rs118203426
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		C 0.800 CausalMutation CLINVAR