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: rs118203717
rs118203717
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		C 0.700 GeneticVariation CLINVAR Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 17304050 2007
dbSNP: rs118203717
rs118203717
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		G 0.700 GeneticVariation CLINVAR Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 17304050 2007
dbSNP: rs118203717
rs118203717
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		G 0.700 GeneticVariation CLINVAR Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. 10227394 1999
dbSNP: rs118203717
rs118203717
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		C 0.700 GeneticVariation CLINVAR Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. 10227394 1999