AICDA, activation induced cytidine deaminase, 57379

N. diseases: 265; N. variants: 16
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1 ×
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: rs104894324
rs104894324 		0.882 0.120 12 8606951 missense variant G/A snv 4.0E-06
CUI: C0398689
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1
Hyper-IgM Immunodeficiency Syndrome, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015