rs753650776
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs753650776(-;-) |
| Make rs753650776(-;A) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 17 |
| Position | 50168477 |
| Gene | LOC105371818, SGCA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs753650776 |
| dbSNP (classic) | rs753650776 |
| ClinGen | rs753650776 |
| ebi | rs753650776 |
| HLI | rs753650776 |
| Exac | rs753650776 |
| Gnomad | rs753650776 |
| Varsome | rs753650776 |
| LitVar | rs753650776 |
| Map | rs753650776 |
| PheGenI | rs753650776 |
| Biobank | rs753650776 |
| 1000 genomes | rs753650776 |
| hgdp | rs753650776 |
| ensembl | rs753650776 |
| geneview | rs753650776 |
| scholar | rs753650776 |
| rs753650776 | |
| pharmgkb | rs753650776 |
| gwascentral | rs753650776 |
| openSNP | rs753650776 |
| 23andMe | rs753650776 |
| SNPshot | rs753650776 |
| SNPdbe | rs753650776 |
| MSV3d | rs753650776 |
| GWAS Ctlg | rs753650776 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs753650776(-;-) |
| Alt | rs753650776(-;-) |
| Reference | Rs753650776(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Limb-girdle muscular dystrophy |
| Variation | info |
| Gene | SGCA |
| CLNDBN | Limb-girdle muscular dystrophy, type 2D |
| Reversed | 0 |
| HGVS | NC_000017.10:g.48245838delA |
| CLNSRC | |
| CLNACC | RCV000411266.1, |
