rs780226142
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs780226142(A;A) |
| Make rs780226142(A;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 17 |
| Position | 42911321 |
| Gene | G6PC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs780226142 |
| dbSNP (classic) | rs780226142 |
| ClinGen | rs780226142 |
| ebi | rs780226142 |
| HLI | rs780226142 |
| Exac | rs780226142 |
| Gnomad | rs780226142 |
| Varsome | rs780226142 |
| LitVar | rs780226142 |
| Map | rs780226142 |
| PheGenI | rs780226142 |
| Biobank | rs780226142 |
| 1000 genomes | rs780226142 |
| hgdp | rs780226142 |
| ensembl | rs780226142 |
| geneview | rs780226142 |
| scholar | rs780226142 |
| rs780226142 | |
| pharmgkb | rs780226142 |
| gwascentral | rs780226142 |
| openSNP | rs780226142 |
| 23andMe | rs780226142 |
| SNPshot | rs780226142 |
| SNPdbe | rs780226142 |
| MSV3d | rs780226142 |
| GWAS Ctlg | rs780226142 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs780226142(A;A) rs780226142(T;T) |
| Alt | rs780226142(A;A) rs780226142(T;T) |
| Reference | Rs780226142(C;C) |
| Significance | Other |
| Disease | Glycogen storage disease type 1A |
| Variation | info |
| Gene | G6PC |
| CLNDBN | Glycogen storage disease type 1A |
| Reversed | 0 |
| HGVS | NC_000017.10:g.41063338C>A |
| CLNSRC | |
| CLNACC | RCV000169104.2, |
