C8B, complement C8 beta chain, 732

N. diseases: 17; N. variants: 16
Disease: Complement Component 6 Deficiency ×
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: rs146187042
rs146187042 		0.925 0.080 1 56956889 stop gained G/A snv 1.2E-04 2.2E-04
CUI: C2676232
Disease: Complement Component 6 Deficiency
Complement Component 6 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 3 1995 2009
dbSNP: rs41286844
rs41286844 		0.925 0.080 1 56940965 stop gained G/A;C;T snv 1.1E-03; 4.0E-06; 4.0E-06
CUI: C2676232
Disease: Complement Component 6 Deficiency
Complement Component 6 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 2 1993 1995