|| common in complete genomics
|| Carrier for a variant possibly associated with MASP2 deficiency
|| Possible MASP2 deficiency
rs72550870, also known as c.359A>G, p.Asp120Gly and D120G, represents a somewhat common variant in the MASP2 gene on chromosome 1.
At least when inherited as a homozygous recessive, this variant may be associated with mildly elevated risk for infection and inflammatory diseases, however, some homozygous individuals never experience clinical symptoms. The penetrance (and pathogenicity) remains unclear for the time being.
[PMID 20042521] Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 23142462] A novel assay to quantitate MASP-2/ficolin-3 complexes in serum