rs369607332
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs369607332(A;A) |
| Make rs369607332(A;C) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 71570679 |
| Gene | DYSF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs369607332 |
| dbSNP (classic) | rs369607332 |
| ClinGen | rs369607332 |
| ebi | rs369607332 |
| HLI | rs369607332 |
| Exac | rs369607332 |
| Gnomad | rs369607332 |
| Varsome | rs369607332 |
| LitVar | rs369607332 |
| Map | rs369607332 |
| PheGenI | rs369607332 |
| Biobank | rs369607332 |
| 1000 genomes | rs369607332 |
| hgdp | rs369607332 |
| ensembl | rs369607332 |
| geneview | rs369607332 |
| scholar | rs369607332 |
| rs369607332 | |
| pharmgkb | rs369607332 |
| gwascentral | rs369607332 |
| openSNP | rs369607332 |
| 23andMe | rs369607332 |
| SNPshot | rs369607332 |
| SNPdbe | rs369607332 |
| MSV3d | rs369607332 |
| GWAS Ctlg | rs369607332 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs369607332(A;A) rs369607332(T;T) |
| Alt | rs369607332(A;A) rs369607332(T;T) |
| Reference | Rs369607332(C;C) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy not provided |
| Variation | info |
| Gene | DYSF |
| CLNDBN | Limb-girdle muscular dystrophy, type 2B not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.71797809C>T |
| CLNSRC | Quest Diagnostics |
| CLNACC | RCV000201098.1, RCV000255805.1, |
