rs72546668
A SNP in the CAV3 gene on chromosome 3. Its most notable genotype is C;C: common in clinvar
- Gene
- CAV3
- Location
- Chr 38,745,644 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Show notes, about 180 words
CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro. CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro. Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes.
Source and license
Adapted from rs72546668 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.