rs121434369
A SNP in the SYCE2 gene on chromosome 19. Its most notable genotype is T;T: glutaric acidemia type I
- Gene
- SYCE2
- Location
- Chr 1912,897,824 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TBadUnaffected carrier of a glutaric acidemia type I mutation
- T;TMost notableBadglutaric acidemia type I
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other SYCE2 SNPs
- rs141437721A;GCarrier of a Glutaric aciduria type I mutationImportant
- rs147611168A;GCarrier of a Glutaric aciduria type I mutationImportant
- rs150938052C;TCarrier of a Glutaric aciduria type I mutationImportant
- rs372983141C;GCarrier of a Glutaric aciduria type I mutationImportant
- rs752127949C;TCarrier of a Glutaric aciduria type I mutationImportant
Notes
From SNPedia
Notes
rs121434369, also known as R402W or Arg402Trp, is a mutation in the glutaryl-CoA dehydrogenase GCDH gene on chromosome 19. The rare rs121434369(T) allele is reported to be the most common GCDH mutation in Caucasians. Since glutaric acidemia I disease is caused by homozygous or compound heterozygous mutation in the GCDH gene, this SNP is predicted to be the most common mutation associated with glutaric acidemia I.
T;T
This genotype is reported as leading to glutaric acidemia type I.
Source and license
Adapted from rs121434369 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.