rs80358248
A SNP in the TPM3 gene on chromosome 1. Its most notable genotype is A;A: Nemaline Myopathy 1
- Gene
- TPM3
- Location
- Chr 1154,191,925 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GNot ratedNemaline Myopathy 1
- A;AMost notableBadNemaline Myopathy 1
SNPedia records rs80358248 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Source and license
Adapted from rs80358248 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.