rs869312093
A SNP in the TTN gene on chromosome 2. Its most notable genotype is A;G: Possible (silent?) cardiac issue
- Gene
- TTN
- Location
- Chr 2178,764,788 (GRCh38)
- Highest magnitude
- 2.7Worth knowing
- Tested on
- Not on consumer chips
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon/normal
- A;GMost notableBadPossible (silent?) cardiac issue
SNPedia records rs869312093 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other TTN SNPs
- rs1060500435A;GDilated cardiomyopathy and/or early-onset atrial fibrillation (predicted)Very important
- rs397517580A;GSome assertions re cardiac issues (see text)Very important
- rs28933405A;CFamilial Hypertrophic CardiomyopathyImportant
- rs202234172C;TPossible (silent?) cardiac issueWorth knowing
- rs368219776C;TPossible (silent?) cardiac issueWorth knowing
- rs770579313A;GPossible (silent?) cardiac issueWorth knowing
- rs869312089C;TPossible (silent?) cardiac issueWorth knowing
- rs869312091-;TPossible (silent?) cardiac issueWorth knowing
Notes
From SNPedia
Notes
rs869312093, also known as c.9727C>T, p.Gln3243Ter and Q3243X, is a rare mutation in the TTN gene. Titin-truncating variants (TTNtv) commonly cause dilated cardiomyopathy (DCM), yet may be silently present in ~1% of the general population. This variant was observed in healthy humans, where machine-learning-based analysis of high-resolution cardiac imaging showed it to be associated with eccentric cardiac remodeling.
A;G
see discussion at rs869312093
Source and license
Adapted from rs869312093 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.