rs189923208
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs189923208(A;A) |
| Make rs189923208(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 71551040 |
| Gene | DYSF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs189923208 |
| dbSNP (classic) | rs189923208 |
| ClinGen | rs189923208 |
| ebi | rs189923208 |
| HLI | rs189923208 |
| Exac | rs189923208 |
| Gnomad | rs189923208 |
| Varsome | rs189923208 |
| LitVar | rs189923208 |
| Map | rs189923208 |
| PheGenI | rs189923208 |
| Biobank | rs189923208 |
| 1000 genomes | rs189923208 |
| hgdp | rs189923208 |
| ensembl | rs189923208 |
| geneview | rs189923208 |
| scholar | rs189923208 |
| rs189923208 | |
| pharmgkb | rs189923208 |
| gwascentral | rs189923208 |
| openSNP | rs189923208 |
| 23andMe | rs189923208 |
| SNPshot | rs189923208 |
| SNPdbe | rs189923208 |
| MSV3d | rs189923208 |
| GWAS Ctlg | rs189923208 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs189923208(A;A) |
| Alt | rs189923208(A;A) |
| Reference | Rs189923208(G;G) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy |
| Variation | info |
| Gene | DYSF |
| CLNDBN | Limb-girdle muscular dystrophy, type 2B |
| Reversed | 0 |
| HGVS | NC_000002.11:g.71778170G>A |
| CLNSRC | |
| CLNACC | RCV000260298.2, |
