Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553511224
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1553511224
rs1553511224
TBR1
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: rs1553511224
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C1837653
Disease: Inflexible adherence to routines or rituals
Inflexible adherence to routines or rituals 		0.700 0
dbSNP: rs1553511224
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C4022524
Disease: Hypoplastic anterior commissure
Hypoplastic anterior commissure 		0.700 0
dbSNP: rs1553511224
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.700 0
dbSNP: rs1553511224
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.700 0
dbSNP: rs1553511224
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs1553511224
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C4476822
Disease: Hypoplastic hippocampus
Hypoplastic hippocampus 		0.700 0
dbSNP: rs1553511224
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.700 0
dbSNP: rs1553511224
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0