rs144081869
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a McArdle disease mutation |
| (T;T) | 5 | McArdle disease (also known as glycogen storage disease type V) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 64750497 |
| Gene | PYGM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs144081869 |
| dbSNP (classic) | rs144081869 |
| ClinGen | rs144081869 |
| ebi | rs144081869 |
| HLI | rs144081869 |
| Exac | rs144081869 |
| Gnomad | rs144081869 |
| Varsome | rs144081869 |
| LitVar | rs144081869 |
| Map | rs144081869 |
| PheGenI | rs144081869 |
| Biobank | rs144081869 |
| 1000 genomes | rs144081869 |
| hgdp | rs144081869 |
| ensembl | rs144081869 |
| geneview | rs144081869 |
| scholar | rs144081869 |
| rs144081869 | |
| pharmgkb | rs144081869 |
| gwascentral | rs144081869 |
| openSNP | rs144081869 |
| 23andMe | rs144081869 |
| SNPshot | rs144081869 |
| SNPdbe | rs144081869 |
| MSV3d | rs144081869 |
| GWAS Ctlg | rs144081869 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | Rs144081869(T;T) |
| Alt | Rs144081869(T;T) |
| Reference | Rs144081869(C;C) |
| Significance | Pathogenic |
| Disease | Glycogen storage disease |
| Variation | info |
| Gene | PYGM |
| CLNDBN | Glycogen storage disease, type V |
| Reversed | 0 |
| HGVS | NC_000011.9:g.64517969C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002396.4, |
