rs80356492
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80356492(A;A) |
| Make rs80356492(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 119025215 |
| Gene | SLC37A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356492 |
| dbSNP (classic) | rs80356492 |
| ClinGen | rs80356492 |
| ebi | rs80356492 |
| HLI | rs80356492 |
| Exac | rs80356492 |
| Gnomad | rs80356492 |
| Varsome | rs80356492 |
| LitVar | rs80356492 |
| Map | rs80356492 |
| PheGenI | rs80356492 |
| Biobank | rs80356492 |
| 1000 genomes | rs80356492 |
| hgdp | rs80356492 |
| ensembl | rs80356492 |
| geneview | rs80356492 |
| scholar | rs80356492 |
| rs80356492 | |
| pharmgkb | rs80356492 |
| gwascentral | rs80356492 |
| openSNP | rs80356492 |
| 23andMe | rs80356492 |
| SNPshot | rs80356492 |
| SNPdbe | rs80356492 |
| MSV3d | rs80356492 |
| GWAS Ctlg | rs80356492 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356492(A;A) |
| Alt | rs80356492(A;A) |
| Reference | Rs80356492(G;G) |
| Significance | Untested |
| Disease | not provided Glucose-6-phosphate transport defect |
| Variation | info |
| Gene | SLC37A4 |
| CLNDBN | not provided Glucose-6-phosphate transport defect |
| Reversed | 1 |
| HGVS | NC_000011.9:g.118895925C>T |
| CLNSRC | UniProtKB (variants) |
| CLNACC | RCV000059118.1, RCV000288403.1, |
[PMID 10518030] Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.
[PMID 10923042] Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
