rs730880686
A SNP in the MYBPC3 gene on chromosome 11. Its most notable genotype is -;G: Familial Hypertrophic Cardiomyopathy
- Gene
- MYBPC3
- Location
- Chr 1147,346,269 (GRCh38)
- Highest magnitude
- 6.2Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;GMost notableBadFamilial Hypertrophic Cardiomyopathy
- G;GGoodcommon in clinvar
SNPedia records rs730880686 on the minus strand: (-;C), (C;C). 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
This is known as a truncating variant. It is expected to produce an abnormal or absent protein. Generally truncating variants on the MYBPC3 gene are known to be disease causing variants. Likewise submitters to ClinVar classify this variant as Pathogenic. This variant has been reported in one individual with Hypertrophic Cardiomyopathy in literature. The variant in called delC343 in the paper.
Source and license
Adapted from rs730880686 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.