rs113994094
A SNP in the POLG gene on chromosome 15. Its most notable genotype is A;G: Carrier of a possible mutation for a mitochondrial syndrome, but significance unclear
- Gene
- POLG
- Location
- Chr 1589,330,184 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GMost notableBadCarrier of a possible mutation for a mitochondrial syndrome, but significance unclear
SNPedia records rs113994094 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other POLG SNPs
- rs113994095T;TPOLG-related disorders, including ataxiasVery important
- rs113994097G;GAtaxias, including spinocerebellar ataxiaVery important
- rs113994098T;TPOLG-related disorders, including ataxiasVery important
- rs113994093C;TCarrier of a POLG mutationImportant
- rs113994096A;GCarrier of a possible mutation for a mitochondrial syndrome, but significance unclearImportant
- rs113994099C;TCarrier of a POLG mutationImportant
- rs113994100A;CCarrier of a POLG mutationImportant
- rs113994101-;GCarrier of a POLG mutationImportant
Notes
From SNPedia
Notes
23andMe name: i5006725
A;G
Pathogenicity of the minor allele is in question; and, as a recessively inherited condition, a carrier would be unaffected in the absence of another POLG gene mutation
Source and license
Adapted from rs113994094 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.