CD40LG, CD40 ligand, 959

N. diseases: 453; N. variants: 25
Disease: Hyperimmunoglobulin M syndrome ×
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: rs193922136
rs193922136 		0.925 0.120 X 136659390 missense variant C/A;T snv
CUI: C0272236
Disease: Hyperimmunoglobulin M syndrome
Hyperimmunoglobulin M syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 2007 2014