rs3218713
A SNP in the MYH7 gene on chromosome 14. Its most notable genotype is A;C: Familial Hypertrophic Cardiomyopathy
- Gene
- MYH7
- Location
- Chr 1423,431,468 (GRCh38)
- Highest magnitude
- 6.2Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TBadFamilial Hypertrophic Cardiomyopathy
- C;TBadFamilial Hypertrophic Cardiomyopathy
- C;CGoodcommon in clinvar
- A;CMost notableBadFamilial Hypertrophic Cardiomyopathy
SNPedia records rs3218713 on the minus strand: (A;A), (A;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageT;T 0% C;T 0% C;C 100% A;C 0%
- European ancestry (Utah)T;T 0% C;T 0% C;C 100% A;C 0%
- Han Chinese (Beijing)T;T 0% C;T 0% C;C 100% A;C 0%
- Japanese (Tokyo)T;T 0% C;T 0% C;C 100% A;C 0%
- Yoruba (Nigeria)T;T 0% C;T 0% C;C 100% A;C 0%
Related
Conditions, medicines and genes
Other MYH7 SNPs
- rs121913633C;THypertrophic CardiomyopathyVery important
- rs267606908C;THypertrophic CardiomyopathyVery important
- rs397516212A;CHypertrophic CardiomyopathyVery important
- rs2069544G;TFamilial Hypertrophic CardiomyopathyVery important
- rs3218714C;GFamilial Hypertrophic CardiomyopathyVery important
- rs36211715C;TFamilial Hypertrophic CardiomyopathyVery important
- rs45611033A;GFamilial Hypertrophic CardiomyopathyVery important
- rs121913626C;GFamilial Hypertrophic CardiomyopathyVery important
Notes
From SNPedia
Notes
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to . see also OMIM 160760.0002
T;T
Familial hypertrophic cardiomyopathy see also OMIM 160760.0002
C;T
Familial hypertrophic cardiomyopathy see also OMIM 160760.0002
Source and license
Adapted from rs3218713 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.