rs886044587
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (GCAGAAGA;GCAGAAGA) | 0 | common in clinvar |
| Chromosome | 3 |
| Position | 8733886 |
| Gene | CAV3, SSUH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886044587 |
| dbSNP (classic) | rs886044587 |
| ClinGen | rs886044587 |
| ebi | rs886044587 |
| HLI | rs886044587 |
| Exac | rs886044587 |
| Gnomad | rs886044587 |
| Varsome | rs886044587 |
| LitVar | rs886044587 |
| Map | rs886044587 |
| PheGenI | rs886044587 |
| Biobank | rs886044587 |
| 1000 genomes | rs886044587 |
| hgdp | rs886044587 |
| ensembl | rs886044587 |
| geneview | rs886044587 |
| scholar | rs886044587 |
| rs886044587 | |
| pharmgkb | rs886044587 |
| gwascentral | rs886044587 |
| openSNP | rs886044587 |
| 23andMe | rs886044587 |
| SNPshot | rs886044587 |
| SNPdbe | rs886044587 |
| MSV3d | rs886044587 |
| GWAS Ctlg | rs886044587 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886044587(-;-) |
| Alt | rs886044587(-;-) |
| Reference | Rs886044587(GCAGAAGA;GCAGAAGA) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy Long QT syndrome |
| Variation | info |
| Gene | SSUH2 CAV3 |
| CLNDBN | Limb-girdle muscular dystrophy, type 1C Long QT syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.8775572_8775579delGAAGAGCA |
| CLNSRC | |
| CLNACC | RCV000381159.1, RCV000465696.1, |
