rs370874727
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs370874727(A;G) |
| Make rs370874727(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 71589591 |
| Gene | DYSF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs370874727 |
| dbSNP (classic) | rs370874727 |
| ClinGen | rs370874727 |
| ebi | rs370874727 |
| HLI | rs370874727 |
| Exac | rs370874727 |
| Gnomad | rs370874727 |
| Varsome | rs370874727 |
| LitVar | rs370874727 |
| Map | rs370874727 |
| PheGenI | rs370874727 |
| Biobank | rs370874727 |
| 1000 genomes | rs370874727 |
| hgdp | rs370874727 |
| ensembl | rs370874727 |
| geneview | rs370874727 |
| scholar | rs370874727 |
| rs370874727 | |
| pharmgkb | rs370874727 |
| gwascentral | rs370874727 |
| openSNP | rs370874727 |
| 23andMe | rs370874727 |
| SNPshot | rs370874727 |
| SNPdbe | rs370874727 |
| MSV3d | rs370874727 |
| GWAS Ctlg | rs370874727 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs370874727(G;G) |
| Alt | rs370874727(G;G) |
| Reference | Rs370874727(A;A) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 |
| Variation | info |
| Gene | DYSF |
| CLNDBN | Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.71816721A>G |
| CLNSRC | |
| CLNACC | RCV000177553.3, RCV000277199.2, |
