rs113994097
A SNP in the POLG gene on chromosome 15. Its most notable genotype is G;G: Ataxias, including spinocerebellar ataxia
- Gene
- POLG
- Location
- Chr 1589,323,426 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GMost notableBadAtaxias, including spinocerebellar ataxia
- C;GBadCarrier of a POLG mutation associated with ataxias
- C;CGoodcommon in clinvar
SNPedia records rs113994097 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.
Related
Conditions, medicines and genes
Other POLG SNPs
- rs113994095T;TPOLG-related disorders, including ataxiasVery important
- rs113994098T;TPOLG-related disorders, including ataxiasVery important
- rs113994093C;TCarrier of a POLG mutationImportant
- rs113994094A;GCarrier of a possible mutation for a mitochondrial syndrome, but significance unclearImportant
- 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
rs113994097, also known as c.2243G>C, p.Trp748Ser and W748S, represents a mutation in the POLG gene on chromosome 15. Inherited in a recessive manner, the uncommon rs113994097(C) allele is associated with a variety of syndromes involving ataxias, including mitochondrial DNA depletion syndrome type 4A (Alpers syndrome) and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO). Haplotype analysis has demonstrated that the rs113994097(C) in patients from Finland, Norway, the United Kingdom, and Belgium appears to originate from a common ancient founder. 23andMe name: i5006731
G;G
see discussion at rs113994097
C;G
see discussion at rs113994097 and at POLG
Source and license
Adapted from rs113994097 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.