Disease: Congenital dyserythropoietic anemia, type II ×
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: rs201270568
rs201270568 		1.000 0.080 20 18554343 missense variant C/T snv 4.8E-05 4.9E-05
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 2009 2009