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: rs118203345
rs118203345
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
C 0.800 GeneticVariation CLINVAR
dbSNP: rs118203396
rs118203396
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
G 0.800 CausalMutation CLINVAR
dbSNP: rs118203426
rs118203426
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
C 0.800 CausalMutation CLINVAR
dbSNP: rs749030456
rs749030456
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
A 0.800 CausalMutation CLINVAR
dbSNP: rs1057518945
rs1057518945
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0265319
Disease:
Fibrous skin tumor of tuberous sclerosis
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518945
rs1057518945
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1968959
Disease:
Cortical tubers
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519319
rs1057519319
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1060503210
rs1060503210
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs1060503213
rs1060503213
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
C 0.700 CausalMutation CLINVAR
dbSNP: rs1060503224
rs1060503224
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1064794132
rs1064794132
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1064794132
rs1064794132
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1064796237
rs1064796237
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
TA 0.700 CausalMutation CLINVAR
dbSNP: rs1114167619
rs1114167619
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR
dbSNP: rs1114167620
rs1114167620
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
AG 0.700 CausalMutation CLINVAR
dbSNP: rs118203347
rs118203347
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0005695
Disease:
Bladder Neoplasm
0.700 GeneticVariation UNIPROT
dbSNP: rs118203362
rs118203362
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
GT 0.700 CausalMutation CLINVAR
dbSNP: rs118203384
rs118203384
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203385
rs118203385
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0005695
Disease:
Bladder Neoplasm
0.700 GeneticVariation UNIPROT
dbSNP: rs118203388
rs118203388
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0751674
Disease:
Lymphangioleiomyomatosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs118203427
rs118203427
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0751674
Disease:
Lymphangioleiomyomatosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203427
rs118203427
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
A 0.700 CausalMutation CLINVAR
dbSNP: rs118203447
rs118203447
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs118203451
rs118203451
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
C 0.700 CausalMutation CLINVAR
dbSNP: rs118203454
rs118203454
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder)
C 0.700 CausalMutation CLINVAR