rs72550870

A SNP in the MASP2 gene on chromosome 1. Its most notable genotype is C;T: Carrier for a variant possibly associated with MASP2 deficiency

Gene
MASP2
Location
Chr 111,046,609 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA
Minor allele frequency
2%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TGoodcommon in complete genomicsTypical · 0.0
  2. C;TMost notableBadCarrier for a variant possibly associated with MASP2 deficiencyImportant · 3.0
  3. C;CBadPossible MASP2 deficiencyImportant · 3.0

SNPedia records rs72550870 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

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.

C;T

Unaffected in absence of another mutation; additionally, this may even be benign. See rs72550870

C;C

Pathogenicity of this genotype is unclear; see rs72550870

Source and license

Adapted from rs72550870 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.