rs116840782
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs116840782(A;A) |
| Make rs116840782(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 8733960 |
| Gene | CAV3, SSUH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs116840782 |
| dbSNP (classic) | rs116840782 |
| ClinGen | rs116840782 |
| ebi | rs116840782 |
| HLI | rs116840782 |
| Exac | rs116840782 |
| Gnomad | rs116840782 |
| Varsome | rs116840782 |
| LitVar | rs116840782 |
| Map | rs116840782 |
| PheGenI | rs116840782 |
| Biobank | rs116840782 |
| 1000 genomes | rs116840782 |
| hgdp | rs116840782 |
| ensembl | rs116840782 |
| geneview | rs116840782 |
| scholar | rs116840782 |
| rs116840782 | |
| pharmgkb | rs116840782 |
| gwascentral | rs116840782 |
| openSNP | rs116840782 |
| 23andMe | rs116840782 |
| SNPshot | rs116840782 |
| SNPdbe | rs116840782 |
| MSV3d | rs116840782 |
| GWAS Ctlg | rs116840782 |
| Merged from | Rs121909279 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs116840782(A;A) |
| Alt | rs116840782(A;A) |
| Reference | Rs116840782(C;C) |
| Significance | Pathogenic |
| Disease | Rippling muscle disease 2 Limb-girdle muscular dystrophy not provided |
| Variation | info |
| Gene | SSUH2 CAV3 |
| CLNDBN | Rippling muscle disease 2 Limb-girdle muscular dystrophy, type 1C not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.8775646C>A |
| CLNSRC | Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008770.3, RCV000008771.4, RCV000024386.1, |
[PMID 12557291] Consequences of a novel caveolin-3 mutation in a large German family.
[PMID 19835634
] Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
[PMID 21294223] Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.
