ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 149; N. variants: 29
Disease: Fibular bowing ×
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: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016