ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 77; N. variants: 22
Disease: Global developmental delay ×
Source: CLINVAR ×
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: rs377619533
rs377619533 		1.000 18 33743312 stop gained C/A;T snv 2.8E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0