rs181834806
A SNP in the MYBPC3 gene on chromosome 11. Its most notable genotype is C;T: Conflicting Diagnosis for Hypertrophic Cardiomyopathy
- Gene
- MYBPC3
- Location
- Chr 1147,342,658 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;TMost notableNot ratedConflicting Diagnosis for Hypertrophic Cardiomyopathy
- T;TGoodcommon in clinvar
On SNPedia: (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
- rs113358486A;CFamilial Hypertrophic CardiomyopathyVery important
Notes
From SNPedia
Notes
In 2016 it was noticed that Black Americans were being genetically misdiagnosed for variants that were common in unaffected black Americans. nih.gov In the past people with this variant were told that this variant is Likely Pathogenic for Hypertrophic Cardiomyopathy. With inclusion of new ethnic population studies this is now considered a uncertain or likely benign variants on labs reporting to ClinVar as of the date of this entry.
Source and license
Adapted from rs181834806 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.