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: rs118203434
rs118203434
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		A 0.700 CausalMutation CLINVAR Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. 28968464 2017
dbSNP: rs118203434
rs118203434
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		A 0.700 CausalMutation CLINVAR Molecular genetic, cardiac and neurodevelopmental findings in cases of prenatally diagnosed rhabdomyoma associated with tuberous sclerosis complex. 22791573 2013
dbSNP: rs118203434
rs118203434
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		A 0.700 CausalMutation CLINVAR Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. 10363127 1998