CD40, CD40 molecule, 958

N. diseases: 528; N. variants: 21
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3 ×
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: rs28931586
rs28931586 		1.000 0.120 20 46122349 missense variant T/C snv
CUI: C1720957
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 2001 2016
dbSNP: rs1568905451
rs1568905451 		1.000 0.120 20 46121863 inframe deletion TAA/- delins
CUI: C1720957
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1568906348
rs1568906348 		1.000 0.120 20 46122608 splice acceptor variant A/T snv
CUI: C1720957
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0