ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 77; N. variants: 22
Disease: Absent speech ×
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: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs377619533
rs377619533 		1.000 18 33743312 stop gained C/A;T snv 2.8E-05
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0