CD40LG, CD40 ligand, 959

N. diseases: 393; N. variants: 9
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1 ×
Source: BEFREE ×
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: rs193922136
rs193922136 		0.925 0.120 X 136659390 missense variant C/A;T snv
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 0.820 1.000 2 1993 2019
dbSNP: rs104894769
rs104894769 		1.000 0.120 X 136659093 missense variant T/A;C snv
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 0.810 1.000 1 1993 2019
dbSNP: rs193922135
rs193922135 		1.000 0.120 X 136648279 stop gained C/T snv
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 0.710 1.000 1 1998 1998
dbSNP: rs1085307733
rs1085307733 		1.000 0.120 X 136659287 stop gained C/T snv
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 2000 2000
dbSNP: rs148594123
rs148594123 		1.000 0.120 X 136659284 missense variant G/A snv 1.1E-02 1.0E-02
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 2012 2012