ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
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: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2012 2015
dbSNP: rs1057518918
rs1057518918 		0.882 0.160 6 157184329 frameshift variant C/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518951
rs1057518951 		0.827 0.160 6 156829296 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs797045283
rs797045283 		0.827 0.320 6 157207109 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0