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: rs55732192
rs55732192
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs55732192
rs55732192
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0871470
Disease:
Systolic Pressure
G 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs1553510217
rs1553510217
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1837397
Disease:
Severe global developmental delay
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510301
rs1553510301
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1837397
Disease:
Severe global developmental delay
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511216
rs1553511216
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1837397
Disease:
Severe global developmental delay
GCGCCCGCAGT 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511224
rs1553511224
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1837397
Disease:
Severe global developmental delay
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511226
rs1553511226
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1837397
Disease:
Severe global developmental delay
C 0.700 GeneticVariation CLINVAR
dbSNP: rs869312704
rs869312704
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1837397
Disease:
Severe global developmental delay
CGCTGCAG 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510492
rs1553510492
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0036572
Disease:
Seizures
G 0.700 CausalMutation CLINVAR
dbSNP: rs869312704
rs869312704
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1535926
Disease:
Neurodevelopmental Disorders
CGCTGCAG 0.700 GeneticVariation CLINVAR
dbSNP: rs869312704
rs869312704
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0026351
Disease:
Moderate intellectual disability
CGCTGCAG 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510171
rs1553510171
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510280
rs1553510280
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510303
rs1553510303
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510313
rs1553510313
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510385
rs1553510385
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510492
rs1553510492
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510492
rs1553510492
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay
G 0.700 CausalMutation CLINVAR
dbSNP: rs1553510680
rs1553510680
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay
CG 0.700 GeneticVariation CLINVAR
dbSNP: rs1553511175
rs1553511175
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay
CA 0.700 GeneticVariation CLINVAR
dbSNP: rs762713626
rs762713626
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay
G 0.700 GeneticVariation CLINVAR
dbSNP: rs869312704
rs869312704
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay
CGCTGCAG 0.700 GeneticVariation CLINVAR
dbSNP: rs869312704
rs869312704
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C4551563
Disease:
Microcephaly (physical finding)
CGCTGCAG 0.700 GeneticVariation CLINVAR
dbSNP: rs890076
rs890076
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0596887
Disease:
mathematical ability
A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs869312704
rs869312704
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1838391
Disease:
Limb hypertonia
CGCTGCAG 0.700 GeneticVariation CLINVAR