rs45496496
A SNP in the MYH7 gene on chromosome 14. Its most notable genotype is C;G: Variant of unclear significance
- Gene
- MYH7
- Location
- Chr 1423,423,939 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs45496496 on the minus strand: (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
rs45496496, also known as c.2890G>C, p.Val964Leu and V964L, represents a very rare in the MYH7 gene on chromosome 14. The minor allele has a frequency of around 1 in 2000 (0.0004 or so). The majority of clinical testing labs reporting to ClinVar believe the minor allele to be most likely benign, although a minority of labs, as well as algorithmic prediction software, feel it might be a pathogenic mutation potentially associated with autosomally dominant primary dilated cardiomyopathy.
C;G
Very rare variant; significance unclear. See discussion at rs45496496
Source and license
Adapted from rs45496496 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.