rs113358486
A SNP in the MYBPC3 gene on chromosome 11. Its most notable genotype is A;C: Familial Hypertrophic Cardiomyopathy
- Gene
- MYBPC3
- Location
- Chr 1147,333,555 (GRCh38)
- Highest magnitude
- 6.2Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;A), (A;C). 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
- rs111729952C;TFamilial Hypertrophic CardiomyopathyVery important
- rs121909374C;GFamilial Hypertrophic CardiomyopathyVery important
Notes
From SNPedia
Notes
The rare minor allele of this variant is reported to be pathogenic for familial hypertrophic cardiomyopathy (HCM), according to in one person. Also multiple submitters on Clinvar that consider this variant pathogenic have reported multiple individuals with this variant. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. Genetics of hypertrophic cardiomyopathy in Norway.
Source and license
Adapted from rs113358486 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.