TBR1, T-box brain transcription factor 1, 10716

N. diseases: 5; N. variants: 23
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553510492
rs1553510492
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0233514
Disease:
Abnormal behavior 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553511224
rs1553511224
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1854882
Disease:
Absent speech 		TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510492
rs1553510492
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1861866
Disease:
Aplasia/Hypoplasia of the corpus callosum 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553510171
rs1553510171
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510217
rs1553510217
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510280
rs1553510280
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510301
rs1553510301
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510313
rs1553510313
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510385
rs1553510385
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510680
rs1553510680
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		CG 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511175
rs1553511175
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		CA 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511216
rs1553511216
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		GCGCCCGCAGT 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511226
rs1553511226
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs762713626
rs762713626
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs869312704
rs869312704
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		CGCTGCAG 0.700 GeneticVariation CLINVAR
dbSNP: rs869312704
rs869312704
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1842364
Disease:
Central hypotonia 		CGCTGCAG 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511224
rs1553511224
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0431380
Disease:
Cortical Dysplasia 		TC 0.700 GeneticVariation CLINVAR
dbSNP: rs869312704
rs869312704
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0454644
Disease:
Delayed speech and language development 		CGCTGCAG 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511224
rs1553511224
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0424503
Disease:
Dysmorphic facies 		TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511224
rs1553511224
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0151611
Disease:
Electroencephalogram abnormal 		TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511224
rs1553511224
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0575081
Disease:
Gait abnormality 		TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511224
rs1553511224
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1858120
Disease:
Generalized hypotonia 		TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511224
rs1553511224
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C4022524
Disease:
Hypoplastic anterior commissure 		TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511224
rs1553511224
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C4476822
Disease:
Hypoplastic hippocampus 		TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511224
rs1553511224
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1837653
Disease:
Inflexible adherence to routines or rituals 		TC 0.700 GeneticVariation CLINVAR