rs72546667
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs72546667(A;A) |
| Make rs72546667(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 8745577 |
| Gene | CAV3, SSUH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72546667 |
| dbSNP (classic) | rs72546667 |
| ClinGen | rs72546667 |
| ebi | rs72546667 |
| HLI | rs72546667 |
| Exac | rs72546667 |
| Gnomad | rs72546667 |
| Varsome | rs72546667 |
| LitVar | rs72546667 |
| Map | rs72546667 |
| PheGenI | rs72546667 |
| Biobank | rs72546667 |
| 1000 genomes | rs72546667 |
| hgdp | rs72546667 |
| ensembl | rs72546667 |
| geneview | rs72546667 |
| scholar | rs72546667 |
| rs72546667 | |
| pharmgkb | rs72546667 |
| gwascentral | rs72546667 |
| openSNP | rs72546667 |
| 23andMe | rs72546667 |
| SNPshot | rs72546667 |
| SNPdbe | rs72546667 |
| MSV3d | rs72546667 |
| GWAS Ctlg | rs72546667 |
| GMAF | 0.03214 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72546667(A;A) |
| Alt | rs72546667(A;A) |
| Reference | Rs72546667(G;G) |
| Significance | Other |
| Disease | Limb-girdle muscular dystrophy not specified not provided Limb-girdle muscular dystrophy Cardiovascular phenotype Limb-Girdle Muscular Dystrophy Long QT syndrome |
| Variation | info |
| Gene | SSUH2 CAV3 |
| CLNDBN | Limb-girdle muscular dystrophy, type 1C not specified not provided Limb-girdle muscular dystrophy Cardiovascular phenotype Limb-Girdle Muscular Dystrophy, Dominant Long QT syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.8787263G>A |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008768.5, RCV000039799.11, RCV000119393.4, RCV000171805.1, RCV000249765.1, RCV000362621.1, RCV000466159.1, |
[PMID 9536092] Caveolin-3 in muscular dystrophy.
[PMID 11251997] Mutations in the caveolin-3 gene: When are they pathogenic?
[PMID 15580566] Molecular and muscle pathology in a series of caveolinopathy patients.
[PMID 16770780] CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.
[PMID 9536092] Caveolin-3 in muscular dystrophy.
[PMID 11251997] Mutations in the caveolin-3 gene: When are they pathogenic?
[PMID 16770780] CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.
[PMID 17060380] Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
