rs8012
A SNP in the GCDH gene on chromosome 19. Its most notable genotype is A;A: benign allele wrt glutaric acidemia
- Gene
- GCDH
- Location
- Chr 1912,899,706 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableGoodbenign allele wrt glutaric acidemia
- A;GGoodbenign allele wrt glutaric acidemia
- G;GGoodcommon/normal
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other GCDH SNPs
- rs121434367T;Tglutaric acidemia type IVery important
- rs121434366C;TCarrier of a Glutaric aciduria type I mutationImportant
- rs121434368C;TCarrier of a Glutaric aciduria type I mutationImportant
- rs142967670A;CCarrier of a Glutaric aciduria type I mutationImportant
- rs199999619A;CCarrier of a Glutaric aciduria type I mutationImportant
- rs566417795A;GCarrier of a Glutaric aciduria type I mutationImportant
- rs752334462C;TCarrier of a Glutaric aciduria type I mutationImportant
- rs777201305A;GCarrier of a Glutaric aciduria type I mutationImportant
Notes
From SNPedia
Notes
Although rs8012 is named as in ClinVar as c.*165A>G, in almost all populations the most common (reference) allele is actually rs8012(G). In addition, although the first submission to ClinVar indicated that rs8012(G) was, when inherited in (recessive) homozygous form, associated with glutaric acidemia, the most current submission indicates this allele is actually benign, as would be expected for either the (A) or the (G) allele in this case, given their high allele frequencies. Independently of the glutaric acidemia reports, there is a GWAS finding that reports a very minor effect on blood metabolites associated with the rs8012(A) allele.
Source and license
Adapted from rs8012 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.