rs113994100
A SNP in the POLG gene on chromosome 15. Its most notable genotype is A;C: Carrier of a POLG mutation
- Gene
- POLG
- Location
- Chr 1589,317,531 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- Not on consumer chips
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- A;CMost notableBadCarrier of a POLG mutation
- A;AGoodcommon in clinvar
SNPedia records rs113994100 on the minus strand: (G;T), (T;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
- 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
- rs113994101-;GCarrier of a POLG mutationImportant
Notes
From SNPedia
Notes
A;C
see discussion at rs113994100 and at POLG
Source and license
Adapted from rs113994100 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.