Source: CLINVAR

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: rs1553510492
rs1553510492
TBR1
2 161419040 missense variant A/G snv
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.700 0
dbSNP: rs1553510492
rs1553510492
TBR1
2 161419040 missense variant A/G snv
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.700 0
dbSNP: rs1553510492
rs1553510492
TBR1
2 161419040 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1553510492
rs1553510492
TBR1
2 161419040 missense variant A/G snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.700 0