rs111437311
A SNP in the MYBPC3 gene on chromosome 11. Its most notable genotype is A;G: Familial hypertrophic cardiomyopathy (possible)
- Gene
- MYBPC3
- Location
- Chr 1147,342,576 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;GMost notableBadFamilial hypertrophic cardiomyopathy (possible)
On SNPedia: (A;A), (A;G). 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
- rs113358486A;CFamilial Hypertrophic CardiomyopathyVery important
Notes
From SNPedia
Notes
The rare minor allele of this variant, c.1624+2T>C, is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to . Another variant, c.1624+2T>A, is reported in dbSNP, but clinical impact is unknown. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Source and license
Adapted from rs111437311 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.