TBR1, T-box brain transcription factor 1, 10716

N. diseases: 65; N. variants: 23
Disease: Severe global developmental delay ×
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: 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: 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: rs1553511216
rs1553511216 		1.000 0.040 2 161423815 frameshift variant -/GCCCGCAGTC delins
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1553511224
rs1553511224 		0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1553511226
rs1553511226 		1.000 0.040 2 161423830 frameshift variant GC/- delins
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs869312704
rs869312704 		0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0