rs116840801
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs116840801(C;C) |
| Make rs116840801(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 8745668 |
| Gene | CAV3, SSUH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs116840801 |
| dbSNP (classic) | rs116840801 |
| ClinGen | rs116840801 |
| ebi | rs116840801 |
| HLI | rs116840801 |
| Exac | rs116840801 |
| Gnomad | rs116840801 |
| Varsome | rs116840801 |
| LitVar | rs116840801 |
| Map | rs116840801 |
| PheGenI | rs116840801 |
| Biobank | rs116840801 |
| 1000 genomes | rs116840801 |
| hgdp | rs116840801 |
| ensembl | rs116840801 |
| geneview | rs116840801 |
| scholar | rs116840801 |
| rs116840801 | |
| pharmgkb | rs116840801 |
| gwascentral | rs116840801 |
| openSNP | rs116840801 |
| 23andMe | rs116840801 |
| SNPshot | rs116840801 |
| SNPdbe | rs116840801 |
| MSV3d | rs116840801 |
| GWAS Ctlg | rs116840801 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs116840801(C;C) |
| Alt | rs116840801(C;C) |
| Reference | Rs116840801(T;T) |
| Significance | Pathogenic |
| Disease | Rippling muscle disease |
| Variation | info |
| Gene | CAV3 |
| CLNDBN | Rippling muscle disease |
| Reversed | 0 |
| HGVS | NC_000003.11:g.8787354T>C |
| CLNSRC | |
| CLNACC | |
[PMID 12666119] Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
