Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030737
rs5030737
MBL2
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		A 0.700 CausalMutation CLINVAR Defective activities, but not secretions, resulting from gene point mutations of human mannan-binding lectin. 22323042

2012
dbSNP: rs5030737
rs5030737
MBL2
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		A 0.700 CausalMutation CLINVAR Mannose-binding lectin (MBL) deficiency. Variant alleles in a midwestern population of the United States. 10071515

1999
dbSNP: rs5030737
rs5030737
MBL2
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		A 0.700 CausalMutation CLINVAR Mannose binding protein gene mutations associated with unusual and severe infections in adults. 7707811

1995
dbSNP: rs5030737
rs5030737
MBL2
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		A 0.700 CausalMutation CLINVAR A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein. 8206524

1994