rs104894368
A SNP in the MYL2 gene on chromosome 12. Its most notable genotype is C;T: Familial hypertrophic cardiomyopathy (possible)
- Gene
- MYL2
- Location
- Chr 12110,919,133 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- Not on consumer chips
- Minor allele frequency
- 0%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadFamilial hypertrophic cardiomyopathy (possible)
- C;CGoodcommon in clinvar
SNPedia records rs104894368 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 MYL2 SNPs
- rs104894369A;CFamilial Hypertrophic CardiomyopathyVery important
- rs104894370A;GFamilial Hypertrophic CardiomyopathyVery important
- rs121913658C;GFamilial Hypertrophic CardiomyopathyVery important
- rs397516398C;TFamilial Hypertrophic CardiomyopathyVery important
- rs397516407G;TFamilial Hypertrophic CardiomyopathyVery important
- rs727503296C;TFamilial Hypertrophic CardiomyopathyVery important
- rs863225117C;TFamilial Hypertrophic CardiomyopathyVery important
- rs143139258G;TFamilial hypertrophic cardiomyopathy (possible)Very 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 .
C;T
see discussion at rs104894368
Source and license
Adapted from rs104894368 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.