ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 149; N. variants: 29
Disease: Abnormality of the dentition ×
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: rs1131691668
rs1131691668 		0.925 0.080 18 33742954 stop gained C/T snv
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0