MBL2, mannose binding lectin 2, 4153

N. diseases: 563; N. variants: 21
Disease: Mannose-Binding Protein 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: rs5030737
rs5030737 		0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1994 2012
dbSNP: rs1800450
rs1800450 		0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0