Disease: Maturation defect ×
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: rs80358259
rs80358259 		0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04
CUI: C0334070
Disease: Maturation defect
Maturation defect 		0.010 1.000 1 2013 2013