rs104894729

A SNP in the TNNI3 gene on chromosome 19. Its most notable genotype is C;T: Familial Hypertrophic Cardiomyopathy

Gene
TNNI3
Location
Chr 1955,151,892 (GRCh38)
Highest magnitude
6.2Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TBadFamilial restrictive cardiomyopathy, type 1Very important · 6.0
  2. C;TMost notableBadFamilial Hypertrophic CardiomyopathyVery important · 6.2
  3. C;GBadFamilial Hypertrophic CardiomyopathyVery important · 6.2
  4. C;CGoodcommon in clinvarTypical · 0.0
  5. A;CBadFamilial Hypertrophic CardiomyopathyVery important · 6.2

SNPedia records rs104894729 on the minus strand: (A;A), (A;G), (C;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other TNNI3 SNPs

All TNNI3 SNPs

Notes

From SNPedia

Notes

rs104894729, also known as c.575G>A, p.Arg192His and R192H, represents a rare mutation in the TNNI3 gene on chromosome 19. A single copy of the rare rs104894729(A) allele is reported to lead to familial restrictive cardiomyopathy, type 1. For more information, see OMIM 191044.0006. The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to . This mutation is referred to as i5048716 and i5007732 by 23andMe.

T;T

See discussion at rs104894729

Source and license

Adapted from rs104894729 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.