rs772950604
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (D;D) | 0 | common genotype |
| Make rs772950604(-;T) |
| Make rs772950604(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 19 |
| Position | 46756719 |
| Gene | FKRP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs772950604 |
| dbSNP (classic) | rs772950604 |
| ClinGen | rs772950604 |
| ebi | rs772950604 |
| HLI | rs772950604 |
| Exac | rs772950604 |
| Gnomad | rs772950604 |
| Varsome | rs772950604 |
| LitVar | rs772950604 |
| Map | rs772950604 |
| PheGenI | rs772950604 |
| Biobank | rs772950604 |
| 1000 genomes | rs772950604 |
| hgdp | rs772950604 |
| ensembl | rs772950604 |
| geneview | rs772950604 |
| scholar | rs772950604 |
| rs772950604 | |
| pharmgkb | rs772950604 |
| gwascentral | rs772950604 |
| openSNP | rs772950604 |
| 23andMe | rs772950604 |
| SNPshot | rs772950604 |
| SNPdbe | rs772950604 |
| MSV3d | rs772950604 |
| GWAS Ctlg | rs772950604 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs772950604(T;T) |
| Alt | rs772950604(T;T) |
| Reference | Rs772950604(-;-) |
| 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.47259976_47259977insT |
| CLNSRC | |
| CLNACC | RCV000382228.1, |
