rs281865504
A SNP in the TK2 gene on chromosome 16. Its most notable genotype is T;T: TK-2 related mitochondrial depletion syndrome (myopathic)
- Gene
- TK2
- Location
- Chr 1666,548,983 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- Not on consumer chips
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;-Goodcommon in clinvar
- -;TBadCarrier of a mitochondrial depletion syndrome mutation
- T;TMost notableBadTK-2 related mitochondrial depletion syndrome (myopathic)
SNPedia records rs281865504 on the minus strand: (-;-), (-;A), (A;A). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other TK2 SNPs
- rs137854429T;TTK-2 related mitochondrial depletion syndrome (myopathic)Very important
- rs137854430T;TTK-2 related mitochondrial depletion syndrome (myopathic)Very important
- rs137854431A;ATK-2 related mitochondrial depletion syndrome (myopathic)Very important
- rs137854432C;CTK-2 related mitochondrial depletion syndrome (myopathic)Very important
- rs137886900A;ATK-2 related mitochondrial depletion syndrome (myopathic)Very important
- rs138439950C;CTK-2 related mitochondrial depletion syndrome (myopathic)Very important
- rs142291440C;CTK-2 related mitochondrial depletion syndrome (myopathic)Very important
- rs281865486A;ATK-2 related mitochondrial depletion syndrome (myopathic)Very important
Notes
From SNPedia
Notes
Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form), a recessively inherited condition
-;T
Unaffected in absence of another pathogenic TK2 gene mutation
T;T
see rs281865504
Source and license
Adapted from rs281865504 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.