rs398124209
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Carrier of a McArdle disease mutation |
| Make rs398124209(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 64753125 |
| Gene | PYGM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398124209 |
| dbSNP (classic) | rs398124209 |
| ClinGen | rs398124209 |
| ebi | rs398124209 |
| HLI | rs398124209 |
| Exac | rs398124209 |
| Gnomad | rs398124209 |
| Varsome | rs398124209 |
| LitVar | rs398124209 |
| Map | rs398124209 |
| PheGenI | rs398124209 |
| Biobank | rs398124209 |
| 1000 genomes | rs398124209 |
| hgdp | rs398124209 |
| ensembl | rs398124209 |
| geneview | rs398124209 |
| scholar | rs398124209 |
| rs398124209 | |
| pharmgkb | rs398124209 |
| gwascentral | rs398124209 |
| openSNP | rs398124209 |
| 23andMe | rs398124209 |
| SNPshot | rs398124209 |
| SNPdbe | rs398124209 |
| MSV3d | rs398124209 |
| GWAS Ctlg | rs398124209 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs398124209(G;G) |
| Alt | rs398124209(G;G) |
| Reference | Rs398124209(C;C) |
| Significance | Other |
| Disease | not provided Glycogen storage disease |
| Variation | info |
| Gene | PYGM |
| CLNDBN | not provided Glycogen storage disease, type V |
| Reversed | 1 |
| HGVS | NC_000011.9:g.64520597G>C |
| CLNSRC | HGMD |
| CLNACC | RCV000081305.3, RCV000174342.1, |
