SATB2, SATB homeobox 2, 23314

N. diseases: 233; N. variants: 38
Disease: Global developmental delay ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553538917
rs1553538917 		0.882 0.120 2 199272423 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1553544133
rs1553544133 		0.851 0.200 2 199308845 frameshift variant TC/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0