rs111729952
A SNP in the MYBPC3 gene on chromosome 11. Its most notable genotype is C;T: Familial Hypertrophic Cardiomyopathy
- Gene
- MYBPC3
- Location
- Chr 1147,337,796 (GRCh38)
- Highest magnitude
- 6.2Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;TMost notableBadFamilial Hypertrophic Cardiomyopathy
- G;TBadFamilial hypertrophic cardiomyopathy (possible)
- T;TGoodcommon in clinvar
On SNPedia: (C;T), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other MYBPC3 SNPs
- rs397515963C;CLikely severe cardiomyopathyVery important
- rs200411226C;THypertrophic CardiomyopathyVery important
- rs375882485A;Gfamilial hypertrophic cardiomyopathy mutationVery important
- rs786204338C;GHypertrophic CardiomyopathyVery important
- rs1060501474G;THypertrophic CardiomyopathyVery important
- rs111683277C;TFamilial Hypertrophic CardiomyopathyVery important
- rs113358486A;CFamilial Hypertrophic CardiomyopathyVery important
- rs121909374C;GFamilial Hypertrophic CardiomyopathyVery important
Notes
From SNPedia
Show notes, about 160 words
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to . A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life. Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression. Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
G;T
see discussion at rs111729952
Source and license
Adapted from rs111729952 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.