rs121964976

A SNP in the GLDC gene on chromosome 9. Its most notable genotype is G;G: Glycine encephalopathy; Non-ketotic hyperglycinemia

Gene: GLDC
Location: Chr 96,589,230 (GRCh38)
Highest magnitude: 8.8Very important
Tested on: AncestryDNA
Minor allele frequency: 2%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

SNPedia records rs121964976 on the minus strand: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other GLDC SNPs

All GLDC SNPs

Notes

From SNPedia

Show notes, about 130 words

G;G

see associated ClinVar and OMIM entries

C;G

Unaffected in absence of a second mutation in the GLDC gene Carriers of a single T allele demonstrate no clinical manifestations of glycine encephalopathy, although offspring who inherit two mutant alleles would be expected to exhibit a range of developmental delays without appropriate medical treatment. "Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), which is an inborn error of glycine metabolism defined by deficient activity of the glycine cleavage enzyme and, as a consequence, accumulation of large quantities of glycine in all body tissues including the brain." en.wikipedia.org It is also of interest that lowered expression of GLDC has been related to lower rates of various cancers.,,

References

Source and license

Adapted from rs121964976 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.