rs1553511224, TBR1

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hypoplastic anterior commissure
CUI: C4022524
Disease: Hypoplastic anterior commissure
1 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
Hypoplastic hippocampus
CUI: C4476822
Disease: Hypoplastic hippocampus
1 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
Inflexible adherence to routines or rituals
CUI: C1837653
Disease: Inflexible adherence to routines or rituals
1 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
Cortical Dysplasia
CUI: C0431380
Disease: Cortical Dysplasia
6 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0