rs104894724

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

Gene
TNNI3
Location
Chr 1955,154,146 (GRCh38)
Highest magnitude
6.2Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. C;GMost notableBadFamilial Hypertrophic CardiomyopathyVery important · 6.2
  3. A;GBadFamilial Hypertrophic CardiomyopathyVery important · 6.2
  4. C;CBadFamilial hypertrophic cardiomyopathy, type 7Very important · 5.0
  5. A;ABadFamilial restrictive cardiomyopathy, type 1Very important · 5.0

SNPedia records rs104894724 on the minus strand: (C;C), (C;G), (C;T), (G;G), (T;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

Show notes, about 140 words

rs104894724 represents two rare mutations in the TNNI3 gene on chromosome 19. One mutation is also known as c.433C>G, p.Arg145Gly or R145G. A single copy of the rs104894724(G) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. For more information, see OMIM 191044.0001. This mutation is not known to be tested by 23andMe. The other mutation is also known as c.433C>T, p.Arg145Trp or R145W. A single copy of the rs104894724(T) allele is reported to lead to familial retrictive cardiomyopathy, type 1. For more information, see OMIM 191044.0008. This mutation is referred to as i3002796 by 23andMe. The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to .

C;C

See discussion at rs104894724

A;A

See discussion at rs104894724

Source and license

Adapted from rs104894724 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.