rs116135678
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs116135678(A;A) |
| Make rs116135678(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 64754024 |
| Gene | PYGM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs116135678 |
| dbSNP (classic) | rs116135678 |
| ClinGen | rs116135678 |
| ebi | rs116135678 |
| HLI | rs116135678 |
| Exac | rs116135678 |
| Gnomad | rs116135678 |
| Varsome | rs116135678 |
| LitVar | rs116135678 |
| Map | rs116135678 |
| PheGenI | rs116135678 |
| Biobank | rs116135678 |
| 1000 genomes | rs116135678 |
| hgdp | rs116135678 |
| ensembl | rs116135678 |
| geneview | rs116135678 |
| scholar | rs116135678 |
| rs116135678 | |
| pharmgkb | rs116135678 |
| gwascentral | rs116135678 |
| openSNP | rs116135678 |
| 23andMe | rs116135678 |
| SNPshot | rs116135678 |
| SNPdbe | rs116135678 |
| MSV3d | rs116135678 |
| GWAS Ctlg | rs116135678 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs116135678(A;A) |
| Alt | rs116135678(A;A) |
| Reference | Rs116135678(G;G) |
| Significance | Other |
| Disease | Glycogen storage disease |
| Variation | info |
| Gene | PYGM |
| CLNDBN | Glycogen storage disease, type V |
| Reversed | 0 |
| HGVS | NC_000011.9:g.64521496G>A |
| CLNSRC | |
| CLNACC | RCV000185576.3, |
