TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691965
rs1131691965
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1131691965
rs1131691965
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1131691965
rs1131691965
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0751674
Disease:
Lymphangioleiomyomatosis
C 0.700 GeneticVariation CLINVAR
dbSNP: rs114251396
rs114251396
Entrez Id: 5310;7249;100188847;105371049
Gene Symbol: PKD1;TSC2;MIR1225;LOC105371049
PKD1;TSC2;MIR1225;LOC105371049
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1
0.700 GeneticVariation UNIPROT
dbSNP: rs1202939879
rs1202939879
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
G 0.700 CausalMutation CLINVAR
dbSNP: rs121964862
rs121964862
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs137854018
rs137854018
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
G 0.700 CausalMutation CLINVAR
dbSNP: rs137854020
rs137854020
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
GC 0.700 CausalMutation CLINVAR
dbSNP: rs137854083
rs137854083
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs137854117
rs137854117
Entrez Id: 4913;7249
Gene Symbol: NTHL1;TSC2
NTHL1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs137854122
rs137854122
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
C 0.700 CausalMutation CLINVAR
dbSNP: rs137854218
rs137854218
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C0041341
Disease:
Tuberous Sclerosis
C 0.700 CausalMutation CLINVAR
dbSNP: rs137854251
rs137854251
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
G 0.700 CausalMutation CLINVAR
dbSNP: rs137854329
rs137854329
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease:
Tuberous Sclerosis
CT 0.700 CausalMutation CLINVAR
dbSNP: rs137854337
rs137854337
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
CTACT 0.700 CausalMutation CLINVAR
dbSNP: rs137854360
rs137854360
Entrez Id: 4913;7249
Gene Symbol: NTHL1;TSC2
NTHL1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs137854361
rs137854361
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs1441428144
rs1441428144
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
G 0.700 CausalMutation CLINVAR
dbSNP: rs150766139
rs150766139
Entrez Id: 4913;7249
Gene Symbol: NTHL1;TSC2
NTHL1;TSC2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR
dbSNP: rs150766139
rs150766139
Entrez Id: 4913;7249
Gene Symbol: NTHL1;TSC2
NTHL1;TSC2
CUI: C0595989
Disease:
Carcinoma of larynx
A 0.700 CausalMutation CLINVAR
dbSNP: rs150766139
rs150766139
Entrez Id: 4913;7249
Gene Symbol: NTHL1;TSC2
NTHL1;TSC2
CUI: C0349604
Disease:
Intracranial Meningioma
A 0.700 CausalMutation CLINVAR
dbSNP: rs150766139
rs150766139
Entrez Id: 4913;7249
Gene Symbol: NTHL1;TSC2
NTHL1;TSC2
CUI: C0678222
Disease:
Breast Carcinoma
A 0.700 CausalMutation CLINVAR
dbSNP: rs150766139
rs150766139
Entrez Id: 4913;7249
Gene Symbol: NTHL1;TSC2
NTHL1;TSC2
CUI: C4225157
Disease:
FAMILIAL ADENOMATOUS POLYPOSIS 3
A 0.700 CausalMutation CLINVAR
dbSNP: rs150766139
rs150766139
Entrez Id: 4913;7249
Gene Symbol: NTHL1;TSC2
NTHL1;TSC2
CUI: C1319315
Disease:
Adenocarcinoma of large intestine
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555439847
rs1555439847
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
TT 0.700 CausalMutation CLINVAR