rs104894730
A SNP in the TNNI3 gene on chromosome 19. Its most notable genotype is C;C: Familial restrictive cardiomyopathy, type 1
- Gene
- TNNI3
- Location
- Chr 1955,154,047 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TGoodcommon in clinvar
- C;TBadFamilial restrictive cardiomyopathy, type 1
- C;CMost notableBadFamilial restrictive cardiomyopathy, type 1
SNPedia records rs104894730 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other TNNI3 SNPs
- rs104894724C;GFamilial Hypertrophic CardiomyopathyVery important
- rs104894725G;TFamilial Hypertrophic CardiomyopathyVery important
- rs104894727C;TFamilial Hypertrophic CardiomyopathyVery important
- rs104894729C;TFamilial Hypertrophic CardiomyopathyVery important
- rs121917760A;GFamilial Hypertrophic CardiomyopathyVery important
- rs267607127C;TFamilial Hypertrophic CardiomyopathyVery important
- rs267607129C;GFamilial Hypertrophic CardiomyopathyVery important
- rs267607130G;TFamilial Hypertrophic CardiomyopathyVery important
Notes
From SNPedia
Notes
rs104894730, also known as c.532A>G, p.Lys178Glu and K178E, represents a rare mutation in the TNNI3 gene on chromosome 19. A single copy of the rare rs104894730(G) allele is reported to lead to familial restrictive cardiomyopathy, type 1. For more information, see OMIM 191044.0007. This mutation is referred to as i5007733 by 23andMe.
C;T
See discussion at rs104894730
C;C
See discussion at rs104894730
Source and license
Adapted from rs104894730 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.