rs119103251
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | McArdle disease (also known as glycogen storage disease type V) |
| (A;G) | 3 | Carrier of a McArdle disease mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 64757826 |
| Gene | PYGM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119103251 |
| dbSNP (classic) | rs119103251 |
| ClinGen | rs119103251 |
| ebi | rs119103251 |
| HLI | rs119103251 |
| Exac | rs119103251 |
| Gnomad | rs119103251 |
| Varsome | rs119103251 |
| LitVar | rs119103251 |
| Map | rs119103251 |
| PheGenI | rs119103251 |
| Biobank | rs119103251 |
| 1000 genomes | rs119103251 |
| hgdp | rs119103251 |
| ensembl | rs119103251 |
| geneview | rs119103251 |
| scholar | rs119103251 |
| rs119103251 | |
| pharmgkb | rs119103251 |
| gwascentral | rs119103251 |
| openSNP | rs119103251 |
| 23andMe | rs119103251 |
| SNPshot | rs119103251 |
| SNPdbe | rs119103251 |
| MSV3d | rs119103251 |
| GWAS Ctlg | rs119103251 |
| GMAF | 0.0004591 |
| Max Magnitude | 5 |
PYGM gene, c.613G>A, p.Gly205Ser or G205S
23andMe name: i5005799
| ClinVar | |
|---|---|
| Risk | Rs119103251(A;A) |
| Alt | Rs119103251(A;A) |
| Reference | Rs119103251(G;G) |
| Significance | Pathogenic |
| Disease | Glycogen storage disease not provided |
| Variation | info |
| Gene | PYGM |
| CLNDBN | Glycogen storage disease, type V not provided |
| Reversed | 1 |
| HGVS | NC_000011.9:g.64525298C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002389.6, RCV000414632.1, |
