rs727504325
A SNP in the MYH7 gene on chromosome 14. Its most notable genotype is C;T: Familial hypertrophic cardiomyopathy (possible)
- Gene
- MYH7
- Location
- Chr 1423,418,234 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadFamilial hypertrophic cardiomyopathy (possible)
- C;CGoodcommon/normal
SNPedia records rs727504325 on the minus strand: (A;G), (G;G). 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
rs727504325, also known as c.4145G>A, p.Arg1382Gln and R1382Q, represents a very rare mutation in the MYH7 gene on chromosome 14. The minor allele may be of uncertain significance, but at least one major publication (from 2015) on familial hypertrophic cardiomyopathy (HCM) reports it as likely to be pathogenic.
C;T
see discussion at rs727504325
Source and license
Adapted from rs727504325 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.