rs60538473
A SNP in the DES gene on chromosome 2. Its most notable genotype is -;CGCGCGCGCGTCGACGTCGAG: Myofibrillar Myopathy
- Gene
- DES
- Location
- Chr 2219,418,979 (GRCh38)
- Highest magnitude
- 6.5Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;CGCGCGCGCGTCGACGTCGAGMost notableBadMyofibrillar Myopathy
- AGCGCGCGCGCGTCGACGTCG;AGCGCGCGCGCGTCGACGTCGGoodcommon in clinvar
- CGCGCGCGCGTCGACGTCGAG;CGCGCGCGCGTCGACGTCGAGGoodcommon in clinvar
On SNPedia: (-;CGCGCGCGCGTCGACGTCGAG), (AGCGCGCGCGCGTCGACGTCG;AGCGCGCGCGCGTCGACGTCG), (CGCGCGCGCGTCGACGTCGAG;CGCGCGCGCGTCGACGTCGAG). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other DES SNPs
- rs57639980C;TMyofibrillar MyopathyVery important
- rs57955682C;TMyofibrillar MyopathyVery important
- rs57965306C;GMyofibrillar MyopathyVery important
- rs58687088-;AACMyofibrillar MyopathyVery important
- rs58898021C;GMyofibrillar MyopathyVery important
- rs60794845A;CMyofibrillar MyopathyVery important
- rs62636495C;TMyofibrillar MyopathyVery important
- rs121913000C;GMyofibrillar MyopathyVery important
Source and license
Adapted from rs60538473 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.