rs374143224
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs374143224(A;A) |
| Make rs374143224(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 17 |
| Position | 80112966 |
| Gene | GAA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs374143224 |
| dbSNP (classic) | rs374143224 |
| ClinGen | rs374143224 |
| ebi | rs374143224 |
| HLI | rs374143224 |
| Exac | rs374143224 |
| Gnomad | rs374143224 |
| Varsome | rs374143224 |
| LitVar | rs374143224 |
| Map | rs374143224 |
| PheGenI | rs374143224 |
| Biobank | rs374143224 |
| 1000 genomes | rs374143224 |
| hgdp | rs374143224 |
| ensembl | rs374143224 |
| geneview | rs374143224 |
| scholar | rs374143224 |
| rs374143224 | |
| pharmgkb | rs374143224 |
| gwascentral | rs374143224 |
| openSNP | rs374143224 |
| 23andMe | rs374143224 |
| SNPshot | rs374143224 |
| SNPdbe | rs374143224 |
| MSV3d | rs374143224 |
| GWAS Ctlg | rs374143224 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs374143224(A;A) |
| Alt | rs374143224(A;A) |
| Reference | Rs374143224(G;G) |
| Significance | Pathogenic |
| Disease | Glycogen storage disease not provided |
| Variation | info |
| Gene | GAA |
| CLNDBN | Glycogen storage disease, type II not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.78086765G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000169600.1, RCV000256037.2, |
