TBR1, T-box brain transcription factor 1, 10716

N. diseases: 5; N. variants: 23
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY ×
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: 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: 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: rs1559060428
rs1559060428 		1.000 2 161417796 missense variant 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: rs771354583
rs771354583 		1.000 2 161416942 stop gained C/G;T snv 2.0E-05 1.4E-05
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 0
dbSNP: rs869312704
rs869312704 		0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 0