rs2288355
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs2288355(A;A) |
| Make rs2288355(A;T) |
| Make rs2288355(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 71568022 |
| Gene | DYSF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2288355 |
| dbSNP (classic) | rs2288355 |
| ClinGen | rs2288355 |
| ebi | rs2288355 |
| HLI | rs2288355 |
| Exac | rs2288355 |
| Gnomad | rs2288355 |
| Varsome | rs2288355 |
| LitVar | rs2288355 |
| Map | rs2288355 |
| PheGenI | rs2288355 |
| Biobank | rs2288355 |
| 1000 genomes | rs2288355 |
| hgdp | rs2288355 |
| ensembl | rs2288355 |
| geneview | rs2288355 |
| scholar | rs2288355 |
| rs2288355 | |
| pharmgkb | rs2288355 |
| gwascentral | rs2288355 |
| openSNP | rs2288355 |
| 23andMe | rs2288355 |
| SNPshot | rs2288355 |
| SNPdbe | rs2288355 |
| MSV3d | rs2288355 |
| GWAS Ctlg | rs2288355 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2288355(A;A) |
| Alt | rs2288355(A;A) |
| Reference | rs2288355(T;T) |
| Significance | Other |
| Disease | not specified Limb-Girdle Muscular Dystrophy Miyoshi myopathy |
| Variation | info |
| Gene | DYSF |
| CLNDBN | not specified Limb-Girdle Muscular Dystrophy, Recessive Miyoshi myopathy |
| Reversed | 1 |
| HGVS | NC_000002.11:g.71795152A>T |
| CLNSRC | |
| CLNACC | RCV000080254.10, RCV000283608.1, RCV000378035.1, |
