rs28936415

A SNP in the PMM2 gene on chromosome 16. Its most notable genotype is A;A: Congenital Disorder of Glycosylation Type 1a

Gene
PMM2
Location
Chr 168,811,153 (GRCh38)
Highest magnitude
5.0Very important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadCongenital Disorder of Glycosylation Type 1aVery important · 5.0
  2. A;GBadcarrier of Congenital Disorder of Glycosylation Type 1a alleleVery important · 4.0
  3. G;GGoodcommon in clinvarTypical · 0.0

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other PMM2 SNPs

All PMM2 SNPs

Notes

From SNPedia

Notes

rs28936415, also known as c.422G>A, p.Arg141His and R141H, represents a rare variant in the PMM2 gene on chromosome 16. ClinVar and other sources designate this variant as pathogenic for Congenital disorder of glycosylation, type 1a, which is a recessive disorder.

Source and license

Adapted from rs28936415 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.