ASXL2, ASXL transcriptional regulator 2, 55252

N. diseases: 89; N. variants: 8
Disease: Advanced bone age ×
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: rs886041065
rs886041065 		0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		0.700 0