rs116840773
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs116840773(A;A) |
| Make rs116840773(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 8745548 |
| Gene | CAV3, SSUH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs116840773 |
| dbSNP (classic) | rs116840773 |
| ClinGen | rs116840773 |
| ebi | rs116840773 |
| HLI | rs116840773 |
| Exac | rs116840773 |
| Gnomad | rs116840773 |
| Varsome | rs116840773 |
| LitVar | rs116840773 |
| Map | rs116840773 |
| PheGenI | rs116840773 |
| Biobank | rs116840773 |
| 1000 genomes | rs116840773 |
| hgdp | rs116840773 |
| ensembl | rs116840773 |
| geneview | rs116840773 |
| scholar | rs116840773 |
| rs116840773 | |
| pharmgkb | rs116840773 |
| gwascentral | rs116840773 |
| openSNP | rs116840773 |
| 23andMe | rs116840773 |
| SNPshot | rs116840773 |
| SNPdbe | rs116840773 |
| MSV3d | rs116840773 |
| GWAS Ctlg | rs116840773 |
| Merged from | Rs121909277 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs116840773(A;A) rs116840773(T;T) |
| Alt | rs116840773(A;A) rs116840773(T;T) |
| Reference | Rs116840773(C;C) |
| Significance | Pathogenic |
| Disease | not provided Rippling muscle disease 2 Distal myopathy |
| Variation | info |
| Gene | SSUH2 CAV3 |
| CLNDBN | not provided Rippling muscle disease 2 Distal myopathy, Tateyama type |
| Reversed | 0 |
| HGVS | NC_000003.11:g.8787234C>A; NC_000003.11:g.8787234C>T |
| CLNSRC | Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000024424.1, RCV000008775.4, RCV000024383.1, RCV000344705.1, |
[PMID 2705900] Rippling muscle disease.
[PMID 11431690] Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
[PMID 19773168] Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.
