rs121913626
A SNP in the MYH7 gene on chromosome 14. Its most notable genotype is C;G: Familial Hypertrophic Cardiomyopathy
- Gene
- MYH7
- Location
- Chr 1423,427,723 (GRCh38)
- Highest magnitude
- 6.2Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;GMost notableBadFamilial Hypertrophic Cardiomyopathy
- C;CGoodcommon in clinvar
- A;CBadFamilial Hypertrophic Cardiomyopathy
SNPedia records rs121913626 on the minus strand: (C;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
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
- rs3218713A;CFamilial Hypertrophic CardiomyopathyVery important
- rs3218714C;GFamilial Hypertrophic CardiomyopathyVery important
- rs36211715C;TFamilial Hypertrophic CardiomyopathyVery important
- rs45611033A;GFamilial Hypertrophic CardiomyopathyVery important
Notes
From SNPedia
Notes
rs121913626, also known as c.1750G>C and p.Gly584Arg, is a mutation in the MYH7 gene considered to be an autosomal dominant leading to familial hypertrophic cardiomyopathy, according to multiple sources in ClinVar. This mutation was the fourth most common pathogenic variant seen in 2,912 unrelated individuals with nonsyndromic hypertrophic cardiomyopathy (HCM) presentations over a 10 year period (2004-2014) at the Partners Healthcare Personalized Medicine clinic in Boston. Note: 23andMe refers to this SNP as i6015303.
Source and license
Adapted from rs121913626 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.