TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203463
rs118203463
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203478
rs118203478
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0431380
Disease:
Cortical Dysplasia
CA 0.700 CausalMutation CLINVAR
dbSNP: rs118203478
rs118203478
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1969144
Disease:
Renal cortical cysts
CA 0.700 CausalMutation CLINVAR
dbSNP: rs118203478
rs118203478
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1565489
Disease:
Renal Insufficiency
CA 0.700 CausalMutation CLINVAR
dbSNP: rs118203504
rs118203504
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs118203542
rs118203542
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203542
rs118203542
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0751674
Disease:
Lymphangioleiomyomatosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203544
rs118203544
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
C 0.700 CausalMutation CLINVAR
dbSNP: rs118203549
rs118203549
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
A 0.700 GeneticVariation CLINVAR
dbSNP: rs118203557
rs118203557
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
C 0.700 CausalMutation CLINVAR
dbSNP: rs118203563
rs118203563
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203614
rs118203614
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0751674
Disease:
Lymphangioleiomyomatosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203645
rs118203645
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
C 0.700 CausalMutation CLINVAR
dbSNP: rs118203680
rs118203680
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203682
rs118203682
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0036572
Disease:
Seizures
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203682
rs118203682
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1332852
Disease:
Cardiac rhabdomyoma
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203682
rs118203682
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0018552
Disease:
Hamartoma
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203685
rs118203685
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203707
rs118203707
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0036572
Disease:
Seizures
C 0.700 CausalMutation CLINVAR
dbSNP: rs118203707
rs118203707
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1968959
Disease:
Cortical tubers
C 0.700 CausalMutation CLINVAR
dbSNP: rs118203707
rs118203707
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0431718
Disease:
Multiple renal cysts
C 0.700 CausalMutation CLINVAR
dbSNP: rs118203709
rs118203709
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
GT 0.700 CausalMutation CLINVAR
dbSNP: rs118203724
rs118203724
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
GT 0.700 CausalMutation CLINVAR