rs113994128

A SNP in the AGL gene on chromosome 1. Its most notable genotype is T;T: Glycogen storage disease type IIIa

Gene
AGL
Location
Chr 199,875,394 (GRCh38)
Highest magnitude
6.3Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TBadCarrier of a glycogen storage disease IIIa mutationImportant · 3.0
  3. T;TMost notableBadGlycogen storage disease type IIIaVery important · 6.3

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

Other AGL SNPs

All AGL SNPs

Notes

From SNPedia

Notes

aka c.1222C>T (p.Arg408Ter or R408X) Apparently due to a founder effect involving this variant, the Faroe Islands have the highest worldwide prevalence of glycogen storage disease (GSD) type IIIa.

C;T

Unaffected in absence of a second AGL gene mutation

T;T

see text and links via main rs-page

Source and license

Adapted from rs113994128 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.