TBR1, T-box brain transcription factor 1, 10716

N. diseases: 5; N. variants: 23
Source: CURATED ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553510301
rs1553510301 		0.925 0.040 2 161417794 missense variant T/C snv
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 1.000 8 2003 2018
dbSNP: rs55732192
rs55732192 		2 161421722 non coding transcript exon variant G/T snv 7.5E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2018 2019
dbSNP: rs116175783
rs116175783 		2 161418336 non coding transcript exon variant G/C snv 3.7E-02 3.3E-02
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs890076
rs890076 		2 161424237 3 prime UTR variant G/A;C snv 0.82
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1173646549
rs1173646549 		1.000 2 161423431 missense variant A/G snv
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 0
dbSNP: rs147026901
rs147026901 		1.000 2 161418988 missense variant G/A snv 1.6E-04 1.7E-04
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 0
dbSNP: rs1553510171
rs1553510171 		1.000 0.040 2 161416881 frameshift variant C/- del
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553510171
rs1553510171 		1.000 0.040 2 161416881 frameshift variant C/- del
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.700 0
dbSNP: rs1553510217
rs1553510217 		1.000 0.040 2 161417083 missense variant A/T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553510217
rs1553510217 		1.000 0.040 2 161417083 missense variant A/T snv
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1553510280
rs1553510280 		1.000 0.040 2 161417690 frameshift variant GTTTTAA/- delins
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.700 0
dbSNP: rs1553510280
rs1553510280 		1.000 0.040 2 161417690 frameshift variant GTTTTAA/- delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553510301
rs1553510301 		0.925 0.040 2 161417794 missense variant T/C snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553510301
rs1553510301 		0.925 0.040 2 161417794 missense variant T/C snv
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1553510303
rs1553510303 		2 161417795 stop gained G/A;C snv
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.700 0
dbSNP: rs1553510313
rs1553510313 		1.000 0.040 2 161417827 stop gained C/T snv
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.700 0
dbSNP: rs1553510313
rs1553510313 		1.000 0.040 2 161417827 stop gained C/T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553510385
rs1553510385 		1.000 0.040 2 161418249 stop gained G/A snv
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.700 0
dbSNP: rs1553510385
rs1553510385 		1.000 0.040 2 161418249 stop gained G/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553510492
rs1553510492 		2 161419040 missense variant A/G snv
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.700 0
dbSNP: rs1553510492
rs1553510492 		2 161419040 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553510492
rs1553510492 		2 161419040 missense variant A/G snv
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.700 0
dbSNP: rs1553510492
rs1553510492 		2 161419040 missense variant A/G snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553510677
rs1553510677 		1.000 2 161420232 stop gained A/G;T snv
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 0
dbSNP: rs1553510680
rs1553510680 		1.000 0.040 2 161420241 frameshift variant -/G delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0