rs28936686
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs28936686(A;A) |
| Make rs28936686(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 8745688 |
| Gene | CAV3, SSUH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28936686 |
| dbSNP (classic) | rs28936686 |
| ClinGen | rs28936686 |
| ebi | rs28936686 |
| HLI | rs28936686 |
| Exac | rs28936686 |
| Gnomad | rs28936686 |
| Varsome | rs28936686 |
| LitVar | rs28936686 |
| Map | rs28936686 |
| PheGenI | rs28936686 |
| Biobank | rs28936686 |
| 1000 genomes | rs28936686 |
| hgdp | rs28936686 |
| ensembl | rs28936686 |
| geneview | rs28936686 |
| scholar | rs28936686 |
| rs28936686 | |
| pharmgkb | rs28936686 |
| gwascentral | rs28936686 |
| openSNP | rs28936686 |
| 23andMe | rs28936686 |
| SNPshot | rs28936686 |
| SNPdbe | rs28936686 |
| MSV3d | rs28936686 |
| GWAS Ctlg | rs28936686 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28936686(A;A) rs28936686(T;T) |
| Alt | rs28936686(A;A) rs28936686(T;T) |
| Reference | Rs28936686(G;G) |
| Significance | Pathogenic |
| Disease | Rippling muscle disease 2 not provided Long QT syndrome |
| Variation | info |
| Gene | SSUH2 CAV3 |
| CLNDBN | Rippling muscle disease 2, autosomal recessive not provided Long QT syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.8787374G>A; NC_000003.11:g.8787374G>T |
| CLNSRC | Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008780.3, RCV000024388.2, RCV000234612.2, RCV000157838.2, |
[PMID 15668980] Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
[PMID 12666119] Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
[PMID 19697367] Rippling muscle disease: variable phenotype in a family with five afflicted members.
