rs137854529
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs137854529(C;T) |
| Make rs137854529(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 22274605 |
| Gene | ANO5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854529 |
| dbSNP (classic) | rs137854529 |
| ClinGen | rs137854529 |
| ebi | rs137854529 |
| HLI | rs137854529 |
| Exac | rs137854529 |
| Gnomad | rs137854529 |
| Varsome | rs137854529 |
| LitVar | rs137854529 |
| Map | rs137854529 |
| PheGenI | rs137854529 |
| Biobank | rs137854529 |
| 1000 genomes | rs137854529 |
| hgdp | rs137854529 |
| ensembl | rs137854529 |
| geneview | rs137854529 |
| scholar | rs137854529 |
| rs137854529 | |
| pharmgkb | rs137854529 |
| gwascentral | rs137854529 |
| openSNP | rs137854529 |
| 23andMe | rs137854529 |
| SNPshot | rs137854529 |
| SNPdbe | rs137854529 |
| MSV3d | rs137854529 |
| GWAS Ctlg | rs137854529 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137854529(T;T) |
| Alt | rs137854529(T;T) |
| Reference | Rs137854529(C;C) |
| Significance | Pathogenic |
| Disease | Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy not provided |
| Variation | info |
| Gene | ANO5 |
| CLNDBN | Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy, type 2L not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.22296151C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002250.4, RCV000032966.5, RCV000128778.1, |
[PMID 20096397
] Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
[PMID 21186264] A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
