rs80356485
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80356485(C;T) |
| Make rs80356485(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 42911076 |
| Gene | G6PC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356485 |
| dbSNP (classic) | rs80356485 |
| ClinGen | rs80356485 |
| ebi | rs80356485 |
| HLI | rs80356485 |
| Exac | rs80356485 |
| Gnomad | rs80356485 |
| Varsome | rs80356485 |
| LitVar | rs80356485 |
| Map | rs80356485 |
| PheGenI | rs80356485 |
| Biobank | rs80356485 |
| 1000 genomes | rs80356485 |
| hgdp | rs80356485 |
| ensembl | rs80356485 |
| geneview | rs80356485 |
| scholar | rs80356485 |
| rs80356485 | |
| pharmgkb | rs80356485 |
| gwascentral | rs80356485 |
| openSNP | rs80356485 |
| 23andMe | rs80356485 |
| SNPshot | rs80356485 |
| SNPdbe | rs80356485 |
| MSV3d | rs80356485 |
| GWAS Ctlg | rs80356485 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356485(T;T) |
| Alt | rs80356485(T;T) |
| Reference | Rs80356485(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.41063093C>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000239641.1, |
[PMID 7573034
] Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.
