CD19, CD19 molecule, 930

N. diseases: 365; N. variants: 5
Disease: Antibody Deficiency due to Defect in CD19 ×
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: rs1567506566
rs1567506566 		1.000 0.080 16 28936152 splice acceptor variant G/T snv
CUI: C3150738
Disease: Antibody Deficiency due to Defect in CD19
Antibody Deficiency due to Defect in CD19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs886037920
rs886037920 		1.000 0.080 16 28932413 missense variant G/C snv
CUI: C3150738
Disease: Antibody Deficiency due to Defect in CD19
Antibody Deficiency due to Defect in CD19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs886037921
rs886037921 		1.000 0.080 16 28937800 frameshift variant C/- delins
CUI: C3150738
Disease: Antibody Deficiency due to Defect in CD19
Antibody Deficiency due to Defect in CD19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0