rs56378716

A SNP in the MPO gene on chromosome 17. Its most notable genotype is A;G: Carrier of a myeloperoxidase deficiency mutation

Gene
MPO
Location
Chr 1758,279,141 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. A;GMost notableBadCarrier of a myeloperoxidase deficiency mutationImportant · 3.0
  2. A;AGoodcommon in clinvarTypical · 0.0

SNPedia records rs56378716 on the minus strand: (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other MPO SNPs

All MPO SNPs

Notes

From SNPedia

Notes

aka c.752T>C (p.Met251Thr or M251T)

A;G

Unaffected in absence of a second MPO gene mutation

Source and license

Adapted from rs56378716 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.