rs80338701

A SNP in the PMM2 gene on chromosome 16. Its most notable genotype is A;C: Carrier of a congenital disorder of glycosylation type I mutation

Gene
PMM2
Location
Chr 168,811,088 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;CMost notableBadCarrier of a congenital disorder of glycosylation type I mutationImportant · 3.0
  2. C;CGoodcommon in clinvarTypical · 0.0

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

Other PMM2 SNPs

All PMM2 SNPs

Notes

From SNPedia

Notes

aka c.357C>A (p.Phe119Leu or F119L) 23andMe name: i5012679

A;C

Unaffected in absence of a second PMM2 gene mutation

Source and license

Adapted from rs80338701 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.