rs367727229
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs367727229(A;A) |
| Make rs367727229(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 17 |
| Position | 42911364 |
| Gene | G6PC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs367727229 |
| dbSNP (classic) | rs367727229 |
| ClinGen | rs367727229 |
| ebi | rs367727229 |
| HLI | rs367727229 |
| Exac | rs367727229 |
| Gnomad | rs367727229 |
| Varsome | rs367727229 |
| LitVar | rs367727229 |
| Map | rs367727229 |
| PheGenI | rs367727229 |
| Biobank | rs367727229 |
| 1000 genomes | rs367727229 |
| hgdp | rs367727229 |
| ensembl | rs367727229 |
| geneview | rs367727229 |
| scholar | rs367727229 |
| rs367727229 | |
| pharmgkb | rs367727229 |
| gwascentral | rs367727229 |
| openSNP | rs367727229 |
| 23andMe | rs367727229 |
| SNPshot | rs367727229 |
| SNPdbe | rs367727229 |
| MSV3d | rs367727229 |
| GWAS Ctlg | rs367727229 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs367727229(A;A) rs367727229(T;T) |
| Alt | rs367727229(A;A) rs367727229(T;T) |
| Reference | Rs367727229(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Glycogen storage disease type 1A |
| Variation | info |
| Gene | G6PC |
| CLNDBN | Glycogen storage disease type 1A |
| Reversed | 0 |
| HGVS | NC_000017.10:g.41063381G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000169319.1, |
