rs1553510492, TBR1

N. diseases: 4
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.
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 2 161419040 missense variant A/G snv 0.700 0
Aplasia/Hypoplasia of the corpus callosum
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
8 2 161419040 missense variant A/G snv 0.700 0
Moderate global developmental delay
CUI: C2237142
Disease: Moderate global developmental delay
21 2 161419040 missense variant A/G snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 2 161419040 missense variant A/G snv 0.700 0