rs113449357
A SNP in the TMEM43 gene on chromosome 3. Its most notable genotype is C;T: likely to be benign
- Gene
- TMEM43
- Location
- Chr 314,139,231 (GRCh38)
- Highest magnitude
- 0.5Typical
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Show notes, about 120 words
rs113449357, also known as c.934C>T, p.Arg312Trp and R312W, is a variant in the TMEM43 gene on chromosome 3. There are conflicting interpretations in ClinVar of whether the minor allele of this variant is pathogenic for an unspecified form of cardiomyopathy. The first report, apparently based on a single patient, indicated it was likely to be pathogenic, but two subsequent reviews (involving more patients and controls) have concluded it is benign. It is a somewhat uncommon variant, present with a frequency of 0.01 - 0.03 depending on the population. If you know of evidence regarding the potential pathogenicity of this variant, let us know.
C;T
see discussion at rs113449357
T;T
see discussion at rs113449357
Source and license
Adapted from rs113449357 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.