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: rs137854882
rs137854882
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs28934872
rs28934872
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0751674
Disease:
Lymphangioleiomyomatosis
A 0.800 CausalMutation CLINVAR
dbSNP: rs45483392
rs45483392
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs45517214
rs45517214
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
G 0.800 CausalMutation CLINVAR
dbSNP: rs45517214
rs45517214
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs45517258
rs45517258
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
G 0.800 CausalMutation CLINVAR
dbSNP: rs1060499647
rs1060499647
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
G 0.700 CausalMutation CLINVAR
dbSNP: rs1060499676
rs1060499676
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
G 0.700 CausalMutation CLINVAR
dbSNP: rs1060500914
rs1060500914
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
G 0.700 CausalMutation CLINVAR
dbSNP: rs1060500924
rs1060500924
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs1060500931
rs1060500931
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs1060500934
rs1060500934
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs1060500938
rs1060500938
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
C 0.700 CausalMutation CLINVAR
dbSNP: rs1060500950
rs1060500950
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
C 0.700 CausalMutation CLINVAR
dbSNP: rs1060500972
rs1060500972
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1064796970
rs1064796970
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1114167459
rs1114167459
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR
dbSNP: rs1114167460
rs1114167460
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1114167461
rs1114167461
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
CTCGATACG 0.700 CausalMutation CLINVAR
dbSNP: rs1114167462
rs1114167462
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR
dbSNP: rs1114167463
rs1114167463
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
CCA 0.700 CausalMutation CLINVAR
dbSNP: rs1114167465
rs1114167465
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR
dbSNP: rs1114167466
rs1114167466
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1114167468
rs1114167468
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR
dbSNP: rs1131691602
rs1131691602
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder)
T 0.700 CausalMutation CLINVAR