rs543300039
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a glycogen storage disease II mutation |
| (G;G) | 0 | common in clinvar |
| Make rs543300039(A;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 80107866 |
| Gene | GAA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs543300039 |
| dbSNP (classic) | rs543300039 |
| ClinGen | rs543300039 |
| ebi | rs543300039 |
| HLI | rs543300039 |
| Exac | rs543300039 |
| Gnomad | rs543300039 |
| Varsome | rs543300039 |
| LitVar | rs543300039 |
| Map | rs543300039 |
| PheGenI | rs543300039 |
| Biobank | rs543300039 |
| 1000 genomes | rs543300039 |
| hgdp | rs543300039 |
| ensembl | rs543300039 |
| geneview | rs543300039 |
| scholar | rs543300039 |
| rs543300039 | |
| pharmgkb | rs543300039 |
| gwascentral | rs543300039 |
| openSNP | rs543300039 |
| 23andMe | rs543300039 |
| SNPshot | rs543300039 |
| SNPdbe | rs543300039 |
| MSV3d | rs543300039 |
| GWAS Ctlg | rs543300039 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs543300039(A;A) |
| Alt | rs543300039(A;A) |
| Reference | Rs543300039(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Glycogen storage disease |
| Variation | info |
| Gene | GAA |
| CLNDBN | Glycogen storage disease, type II |
| Reversed | 0 |
| HGVS | NC_000017.10:g.78081665G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000169127.1, |
