rs761821795
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs761821795(C;T) |
| Make rs761821795(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 19 |
| Position | 46755763 |
| Gene | FKRP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs761821795 |
| dbSNP (classic) | rs761821795 |
| ClinGen | rs761821795 |
| ebi | rs761821795 |
| HLI | rs761821795 |
| Exac | rs761821795 |
| Gnomad | rs761821795 |
| Varsome | rs761821795 |
| LitVar | rs761821795 |
| Map | rs761821795 |
| PheGenI | rs761821795 |
| Biobank | rs761821795 |
| 1000 genomes | rs761821795 |
| hgdp | rs761821795 |
| ensembl | rs761821795 |
| geneview | rs761821795 |
| scholar | rs761821795 |
| rs761821795 | |
| pharmgkb | rs761821795 |
| gwascentral | rs761821795 |
| openSNP | rs761821795 |
| 23andMe | rs761821795 |
| SNPshot | rs761821795 |
| SNPdbe | rs761821795 |
| MSV3d | rs761821795 |
| GWAS Ctlg | rs761821795 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs761821795(T;T) |
| Alt | rs761821795(T;T) |
| Reference | Rs761821795(C;C) |
| Significance | 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.47259020C>T |
| CLNSRC | |
| CLNACC | RCV000272017.1, |
