rs113994095
A SNP in the POLG gene on chromosome 15. Its most notable genotype is T;T: POLG-related disorders, including ataxias
- Gene
- POLG
- Location
- Chr 1589,327,201 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadPOLG-related disorders, including ataxias
- C;TBadCarrier of a POLG mutation associated with ataxias
- C;CGoodcommon in clinvar
SNPedia records rs113994095 on the minus strand: (A;A), (A;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
- rs113994097G;GAtaxias, including spinocerebellar ataxiaVery 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
rs113994095, also known as c.1399G>A, p.Ala467Thr and A467T, represents a mutation in the POLG gene on chromosome 15. Inherited in a recessive manner, the uncommon rs113994095(A) 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).
T;T
see discussion at rs113994095 and at POLG
C;T
see discussion at rs113994095 and at POLG
Source and license
Adapted from rs113994095 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.