Variant: rs5030737 

    present in Gene: MBL2
    present in Chromosome: 10
    Position on Chromosome: 52771482
    Alleles of this Variant: G/A

rs5030737 in MBL2 gene and Mannose-Binding Protein Deficiency PMID 22323042 2012 Defective activities, but not secretions, resulting from gene point mutations of human mannan-binding lectin.

PMID 7707811 1995 Mannose binding protein gene mutations associated with unusual and severe infections in adults.

PMID 8206524 1994 A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein.

PMID 10071515 1999 Mannose-binding lectin (MBL) deficiency. Variant alleles in a midwestern population of the United States.