rs878854376
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (GT;GT) | 0 | common in clinvar |
| Make rs878854376(-;-) |
| Make rs878854376(-;TG) |
| Make rs878854376(TG;TG) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 46755526 |
| Gene | FKRP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs878854376 |
| dbSNP (classic) | rs878854376 |
| ClinGen | rs878854376 |
| ebi | rs878854376 |
| HLI | rs878854376 |
| Exac | rs878854376 |
| Gnomad | rs878854376 |
| Varsome | rs878854376 |
| LitVar | rs878854376 |
| Map | rs878854376 |
| PheGenI | rs878854376 |
| Biobank | rs878854376 |
| 1000 genomes | rs878854376 |
| hgdp | rs878854376 |
| ensembl | rs878854376 |
| geneview | rs878854376 |
| scholar | rs878854376 |
| rs878854376 | |
| pharmgkb | rs878854376 |
| gwascentral | rs878854376 |
| openSNP | rs878854376 |
| 23andMe | rs878854376 |
| SNPshot | rs878854376 |
| SNPdbe | rs878854376 |
| MSV3d | rs878854376 |
| GWAS Ctlg | rs878854376 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs878854376(-;-) |
| Alt | rs878854376(-;-) |
| Reference | Rs878854376(GT;GT) |
| Significance | Probable-Pathogenic |
| Disease | Limb-girdle muscular dystrophy-dystroglycanopathy |
| Variation | info |
| Gene | FKRP |
| CLNDBN | Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.47258783_47258784delTG |
| CLNSRC | |
| CLNACC | RCV000226653.1, |
