rs104894727
A SNP in the TNNI3 gene on chromosome 19. Its most notable genotype is C;T: Familial Hypertrophic Cardiomyopathy
- Gene
- TNNI3
- Location
- Chr 1955,151,881 (GRCh38)
- Highest magnitude
- 6.2Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TBadFamilial hypertrophic cardiomyopathy, type 7
- C;TMost notableBadFamilial Hypertrophic Cardiomyopathy
- C;CGoodcommon in clinvar
SNPedia records rs104894727 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
Conditions, medicines and genes
Other TNNI3 SNPs
- rs104894724C;GFamilial Hypertrophic CardiomyopathyVery important
- rs104894725G;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
- rs397516351-;AAGFamilial Hypertrophic CardiomyopathyVery important
Notes
From SNPedia
Notes
rs104894727, also known as c.586G>A, p.Asp196Asn and D196N, represents a rare mutation in the TNNI3 gene on chromosome 19. A single copy of the rare rs104894727(A) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. For more information, see OMIM 191044.0004. This mutation is referred to as i5007730 by 23andMe.
T;T
See discussion at rs104894727
Source and license
Adapted from rs104894727 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.