rs116840785
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs116840785(A;A) |
| Make rs116840785(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 8733961 |
| Gene | CAV3, SSUH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs116840785 |
| dbSNP (classic) | rs116840785 |
| ClinGen | rs116840785 |
| ebi | rs116840785 |
| HLI | rs116840785 |
| Exac | rs116840785 |
| Gnomad | rs116840785 |
| Varsome | rs116840785 |
| LitVar | rs116840785 |
| Map | rs116840785 |
| PheGenI | rs116840785 |
| Biobank | rs116840785 |
| 1000 genomes | rs116840785 |
| hgdp | rs116840785 |
| ensembl | rs116840785 |
| geneview | rs116840785 |
| scholar | rs116840785 |
| rs116840785 | |
| pharmgkb | rs116840785 |
| gwascentral | rs116840785 |
| openSNP | rs116840785 |
| 23andMe | rs116840785 |
| SNPshot | rs116840785 |
| SNPdbe | rs116840785 |
| MSV3d | rs116840785 |
| GWAS Ctlg | rs116840785 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs116840785(A;A) |
| Alt | rs116840785(A;A) |
| Reference | Rs116840785(C;C) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | SSUH2 CAV3 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.8775647C>A |
| CLNSRC | Leiden Muscular Dystrophy pages (CAV3) |
| CLNACC | RCV000024396.1, |
[PMID 15314133
] Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.
[PMID 15314133] Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.
