rs151317754
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs151317754(A;A) |
| Make rs151317754(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 71561945 |
| Gene | DYSF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs151317754 |
| dbSNP (classic) | rs151317754 |
| ClinGen | rs151317754 |
| ebi | rs151317754 |
| HLI | rs151317754 |
| Exac | rs151317754 |
| Gnomad | rs151317754 |
| Varsome | rs151317754 |
| LitVar | rs151317754 |
| Map | rs151317754 |
| PheGenI | rs151317754 |
| Biobank | rs151317754 |
| 1000 genomes | rs151317754 |
| hgdp | rs151317754 |
| ensembl | rs151317754 |
| geneview | rs151317754 |
| scholar | rs151317754 |
| rs151317754 | |
| pharmgkb | rs151317754 |
| gwascentral | rs151317754 |
| openSNP | rs151317754 |
| 23andMe | rs151317754 |
| SNPshot | rs151317754 |
| SNPdbe | rs151317754 |
| MSV3d | rs151317754 |
| GWAS Ctlg | rs151317754 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs151317754(A;A) |
| Alt | rs151317754(A;A) |
| Reference | Rs151317754(G;G) |
| Significance | Pathogenic |
| Disease | Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy |
| Variation | info |
| Gene | DYSF |
| CLNDBN | Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy, type 2B |
| Reversed | 0 |
| HGVS | NC_000002.11:g.71789075G>A |
| CLNSRC | |
| CLNACC | RCV000261362.2, RCV000349131.2, |
