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: rs1173646549
rs1173646549
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1853755
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
0.700 GeneticVariation UNIPROT
dbSNP: rs147026901
rs147026901
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1853755
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
0.700 GeneticVariation UNIPROT
dbSNP: rs1553510171
rs1553510171
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior
A 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: rs1553510217
rs1553510217
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510217
rs1553510217
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1837397
Disease:
Severe global developmental delay
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: rs1553510280
rs1553510280
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay
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: rs1553510301
rs1553510301
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1837397
Disease:
Severe global developmental delay
C 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: C0856975
Disease:
Autistic behavior
T 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: C0856975
Disease:
Autistic behavior
A 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: C0233514
Disease:
Abnormal behavior
G 0.700 CausalMutation 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: C0036572
Disease:
Seizures
G 0.700 CausalMutation 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: rs1553510492
rs1553510492
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay
G 0.700 CausalMutation CLINVAR
dbSNP: rs1553510677
rs1553510677
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1853755
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
G 0.700 CausalMutation CLINVAR
dbSNP: rs1553510680
rs1553510680
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior
CG 0.700 GeneticVariation 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: C0856975
Disease:
Autistic behavior
CA 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