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: rs1553544133
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1553544133
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.700 0
dbSNP: rs1553544133
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs1553544133
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.700 0
dbSNP: rs1553544133
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 0
dbSNP: rs1553544133
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0