rs869312704, 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.
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
7 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
Limb hypertonia
CUI: C1838391
Disease: Limb hypertonia
12 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
Moderate global developmental delay
CUI: C2237142
Disease: Moderate global developmental delay
21 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
Neurodevelopmental Disorders
CUI: C1535926
Disease: Neurodevelopmental Disorders
14 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0