CFP, complement factor properdin, 5199

N. diseases: 108; N. variants: 7
Disease: Properdin Deficiency, Type III ×
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: rs132630261
rs132630261 		0.925 0.080 X 47626062 missense variant A/C;G snv
CUI: C1839456
Disease: Properdin Deficiency, Type III
Properdin Deficiency, Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0