rs104894654
A SNP in the DTNA gene on chromosome 18. Its most notable genotype is C;T: left ventricular noncompaction (reported)
- Gene
- DTNA
- Location
- Chr 1834,794,250 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadleft ventricular noncompaction (reported)
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Notes
rs104894654, also known as c.362C>T, p.Pro121Leu and P121L, is a rare mutation in the DTNA gene on chromosome 18. Inherited as an autosomal dominant, it reportedly leads to left ventricular noncompaction. See OMIM 601239.0001
C;T
see discussion at rs104894654
Source and license
Adapted from rs104894654 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.