rs116315896
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs116315896(C;T) |
| Make rs116315896(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 64757794 |
| Gene | PYGM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs116315896 |
| dbSNP (classic) | rs116315896 |
| ClinGen | rs116315896 |
| ebi | rs116315896 |
| HLI | rs116315896 |
| Exac | rs116315896 |
| Gnomad | rs116315896 |
| Varsome | rs116315896 |
| LitVar | rs116315896 |
| Map | rs116315896 |
| PheGenI | rs116315896 |
| Biobank | rs116315896 |
| 1000 genomes | rs116315896 |
| hgdp | rs116315896 |
| ensembl | rs116315896 |
| geneview | rs116315896 |
| scholar | rs116315896 |
| rs116315896 | |
| pharmgkb | rs116315896 |
| gwascentral | rs116315896 |
| openSNP | rs116315896 |
| 23andMe | rs116315896 |
| SNPshot | rs116315896 |
| SNPdbe | rs116315896 |
| MSV3d | rs116315896 |
| GWAS Ctlg | rs116315896 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs116315896(T;T) |
| Alt | rs116315896(T;T) |
| Reference | Rs116315896(C;C) |
| Significance | Pathogenic |
| Disease | not specified Glycogen storage disease |
| Variation | info |
| Gene | PYGM |
| CLNDBN | not specified Glycogen storage disease, type V |
| Reversed | 0 |
| HGVS | NC_000011.9:g.64525266C>T |
| CLNSRC | ClinVar Emory University |
| CLNACC | RCV000081315.5, RCV000128552.2, |
