TBR1, T-box brain transcription factor 1, 10716

N. diseases: 65; N. variants: 23
Source: ALL
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: 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: 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: 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: 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: C0856975
Disease: Autistic behavior
Autistic behavior
Behavior and Behavior Mechanisms 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
dbSNP: rs1553511175
rs1553511175
1.000 0.040 2 161423547 frameshift variant ACG/CA delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553511216
rs1553511216
1.000 0.040 2 161423815 frameshift variant -/GCCCGCAGTC delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553511226
rs1553511226
1.000 0.040 2 161423830 frameshift variant GC/- delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs762713626
rs762713626
1.000 0.040 2 161420222 missense variant C/G;T snv 4.0E-06 7.0E-06
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869312704
rs869312704
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
Behavior and Behavior Mechanisms 0.700 0