rs80338680

A SNP in the MAN2B1 gene on chromosome 19. Its most notable genotype is A;G: Carrier of an alpha-mannosidosis mutation

Gene
MAN2B1
Location
Chr 1912,649,932 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GMost notableBadCarrier of an alpha-mannosidosis mutationImportant · 3.0

SNPedia records rs80338680 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

aka c.2248C>T (p.Arg750Trp or R750W) The R750W mutation is considered to be the most common alpha-mannosidosis mutation in a survey of 30 countries. 23andMe name: i5005927

A;G

Unaffected in absence of a second MAN2B1 gene mutation

Source and license

Adapted from rs80338680 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.