rs752582904
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs752582904(C;G) |
| Make rs752582904(G;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 19 |
| Position | 46756397 |
| Gene | FKRP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs752582904 |
| dbSNP (classic) | rs752582904 |
| ClinGen | rs752582904 |
| ebi | rs752582904 |
| HLI | rs752582904 |
| Exac | rs752582904 |
| Gnomad | rs752582904 |
| Varsome | rs752582904 |
| LitVar | rs752582904 |
| Map | rs752582904 |
| PheGenI | rs752582904 |
| Biobank | rs752582904 |
| 1000 genomes | rs752582904 |
| hgdp | rs752582904 |
| ensembl | rs752582904 |
| geneview | rs752582904 |
| scholar | rs752582904 |
| rs752582904 | |
| pharmgkb | rs752582904 |
| gwascentral | rs752582904 |
| openSNP | rs752582904 |
| 23andMe | rs752582904 |
| SNPshot | rs752582904 |
| SNPdbe | rs752582904 |
| MSV3d | rs752582904 |
| GWAS Ctlg | rs752582904 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs752582904(G;G) |
| Alt | rs752582904(G;G) |
| Reference | Rs752582904(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided Limb-girdle muscular dystrophy-dystroglycanopathy |
| Variation | info |
| Gene | FKRP |
| CLNDBN | not provided Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.47259654C>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000178359.1, RCV000263428.1, |
