Variant: rs72550870 

    present in Gene: MASP2
    present in Chromosome: 1
    Position on Chromosome: 11046609
    Alleles of this Variant: T/C

rs72550870 in MASP2 gene and MASP2 Deficiency PMID 19234189 2009 Polymorphisms in mannan-binding lectin (MBL)-associated serine protease 2 affect stability, binding to MBL, and enzymatic activity.

PMID 15086395 2004 Mannan-binding lectin insufficiency in children with recurrent infections of the respiratory system.

PMID 24658431 2015 Mannan-binding lectin-associated serine protease-2 (MASP-2) deficiency in two patients with pulmonary tuberculosis and one healthy control.

PMID 17252003 2007 Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms.

PMID 24332888 2014 Lectin pathway of complement activation in a Polish woman with MASP-2 deficiency.

PMID 17137870 2006 Low clinical penetrance of mannose-binding lectin-associated serine protease 2 deficiency.

PMID 12904520 2003 Inherited deficiency of mannan-binding lectin-associated serine protease 2.