TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745895675
rs745895675
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 GeneticVariation UNIPROT Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017
dbSNP: rs1131691965
rs1131691965
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1567387207
rs1567387207
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1567437155
rs1567437155
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		A 0.700 CausalMutation CLINVAR
dbSNP: rs28934872
rs28934872
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		A 0.700 CausalMutation CLINVAR
dbSNP: rs45469298
rs45469298
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		T 0.700 CausalMutation CLINVAR
dbSNP: rs45517179
rs45517179
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		T 0.700 CausalMutation CLINVAR
dbSNP: rs45517222
rs45517222
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		T 0.700 CausalMutation CLINVAR
dbSNP: rs45517395
rs45517395
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		A 0.700 CausalMutation CLINVAR
dbSNP: rs45517412
rs45517412
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		T 0.700 CausalMutation CLINVAR