rs121918419

A SNP in the GYS2 gene on chromosome 12. Its most notable genotype is A;A: Glycogen storage disease type 0

Gene
GYS2
Location
Chr 1221,568,952 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GBadCarrier of a mutation for glycogen storage disease type 0Important · 3.0
  3. A;AMost notableBadGlycogen storage disease type 0Very important · 5.0

SNPedia records rs121918419 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other GYS2 SNPs

All GYS2 SNPs

Notes

From SNPedia

Notes

rs121918419, also known as c.736C>T, p.Arg246Ter and R246X, represents a rare mutation in the GYS2 gene on chromosome 12. Inherited recessively, the minor allele is considered in ClinVar (and BabySeq) as pathogenic for glycogen storage disease, type 0.

A;G

Unaffected in absence of another pathogenic mutation in the GYS2 gene; see rs121918419

A;A

see rs121918419

Source and license

Adapted from rs121918419 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.