rs747809412
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs747809412(A;A) |
| Make rs747809412(A;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 4 |
| Position | 52033589 |
| Gene | SGCB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs747809412 |
| dbSNP (classic) | rs747809412 |
| ClinGen | rs747809412 |
| ebi | rs747809412 |
| HLI | rs747809412 |
| Exac | rs747809412 |
| Gnomad | rs747809412 |
| Varsome | rs747809412 |
| LitVar | rs747809412 |
| Map | rs747809412 |
| PheGenI | rs747809412 |
| Biobank | rs747809412 |
| 1000 genomes | rs747809412 |
| hgdp | rs747809412 |
| ensembl | rs747809412 |
| geneview | rs747809412 |
| scholar | rs747809412 |
| rs747809412 | |
| pharmgkb | rs747809412 |
| gwascentral | rs747809412 |
| openSNP | rs747809412 |
| 23andMe | rs747809412 |
| SNPshot | rs747809412 |
| SNPdbe | rs747809412 |
| MSV3d | rs747809412 |
| GWAS Ctlg | rs747809412 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs747809412(A;A) |
| Alt | rs747809412(A;A) |
| Reference | Rs747809412(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Limb-girdle muscular dystrophy |
| Variation | info |
| Gene | SGCB |
| CLNDBN | Limb-girdle muscular dystrophy, type 2E |
| Reversed | 0 |
| HGVS | NC_000004.11:g.52899755T>A |
| CLNSRC | |
| CLNACC | RCV000411828.1, |
