rs764920787
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs764920787(A;A) |
| Make rs764920787(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 17 |
| Position | 42901065 |
| Gene | G6PC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs764920787 |
| dbSNP (classic) | rs764920787 |
| ClinGen | rs764920787 |
| ebi | rs764920787 |
| HLI | rs764920787 |
| Exac | rs764920787 |
| Gnomad | rs764920787 |
| Varsome | rs764920787 |
| LitVar | rs764920787 |
| Map | rs764920787 |
| PheGenI | rs764920787 |
| Biobank | rs764920787 |
| 1000 genomes | rs764920787 |
| hgdp | rs764920787 |
| ensembl | rs764920787 |
| geneview | rs764920787 |
| scholar | rs764920787 |
| rs764920787 | |
| pharmgkb | rs764920787 |
| gwascentral | rs764920787 |
| openSNP | rs764920787 |
| 23andMe | rs764920787 |
| SNPshot | rs764920787 |
| SNPdbe | rs764920787 |
| MSV3d | rs764920787 |
| GWAS Ctlg | rs764920787 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs764920787(A;A) |
| Alt | rs764920787(A;A) |
| Reference | Rs764920787(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.41053082G>A |
| CLNSRC | |
| CLNACC | RCV000169341.1, |
