rs2303607
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common genotype |
| Make rs2303607(C;T) |
| Make rs2303607(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 71611527 |
| Gene | DYSF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2303607 |
| dbSNP (classic) | rs2303607 |
| ClinGen | rs2303607 |
| ebi | rs2303607 |
| HLI | rs2303607 |
| Exac | rs2303607 |
| Gnomad | rs2303607 |
| Varsome | rs2303607 |
| LitVar | rs2303607 |
| Map | rs2303607 |
| PheGenI | rs2303607 |
| Biobank | rs2303607 |
| 1000 genomes | rs2303607 |
| hgdp | rs2303607 |
| ensembl | rs2303607 |
| geneview | rs2303607 |
| scholar | rs2303607 |
| rs2303607 | |
| pharmgkb | rs2303607 |
| gwascentral | rs2303607 |
| openSNP | rs2303607 |
| 23andMe | rs2303607 |
| SNPshot | rs2303607 |
| SNPdbe | rs2303607 |
| MSV3d | rs2303607 |
| GWAS Ctlg | rs2303607 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs2303607(T;T) |
| Alt | rs2303607(T;T) |
| Reference | Rs2303607(C;C) |
| 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 | 0 |
| HGVS | NC_000002.11:g.71838657C>T |
| CLNSRC | |
| CLNACC | RCV000080284.9, RCV000303528.1, RCV000339768.1, |
