rs13407355
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common genotype |
| Make rs13407355(C;G) |
| Make rs13407355(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 71513823 |
| Gene | DYSF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs13407355 |
| dbSNP (classic) | rs13407355 |
| ClinGen | rs13407355 |
| ebi | rs13407355 |
| HLI | rs13407355 |
| Exac | rs13407355 |
| Gnomad | rs13407355 |
| Varsome | rs13407355 |
| LitVar | rs13407355 |
| Map | rs13407355 |
| PheGenI | rs13407355 |
| Biobank | rs13407355 |
| 1000 genomes | rs13407355 |
| hgdp | rs13407355 |
| ensembl | rs13407355 |
| geneview | rs13407355 |
| scholar | rs13407355 |
| rs13407355 | |
| pharmgkb | rs13407355 |
| gwascentral | rs13407355 |
| openSNP | rs13407355 |
| 23andMe | rs13407355 |
| SNPshot | rs13407355 |
| SNPdbe | rs13407355 |
| MSV3d | rs13407355 |
| GWAS Ctlg | rs13407355 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs13407355(A;A) rs13407355(G;G) |
| Alt | rs13407355(A;A) rs13407355(G;G) |
| Reference | Rs13407355(C;C) |
| Significance | Other |
| Disease | not specified Miyoshi myopathy Limb-Girdle Muscular Dystrophy |
| Variation | info |
| Gene | DYSF |
| CLNDBN | not specified Miyoshi myopathy Limb-Girdle Muscular Dystrophy, Recessive |
| Reversed | 0 |
| HGVS | NC_000002.11:g.71740953C>G |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000080309.9, RCV000316737.1, RCV000373692.1, |
