rs80356486
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CTT;CTT) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| (TTC;TTC) | 0 | common in clinvar |
| Make rs80356486(-;-) |
| Make rs80356486(-;TTC) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 42911331 |
| Gene | G6PC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356486 |
| dbSNP (classic) | rs80356486 |
| ClinGen | rs80356486 |
| ebi | rs80356486 |
| HLI | rs80356486 |
| Exac | rs80356486 |
| Gnomad | rs80356486 |
| Varsome | rs80356486 |
| LitVar | rs80356486 |
| Map | rs80356486 |
| PheGenI | rs80356486 |
| Biobank | rs80356486 |
| 1000 genomes | rs80356486 |
| hgdp | rs80356486 |
| ensembl | rs80356486 |
| geneview | rs80356486 |
| scholar | rs80356486 |
| rs80356486 | |
| pharmgkb | rs80356486 |
| gwascentral | rs80356486 |
| openSNP | rs80356486 |
| 23andMe | rs80356486 |
| SNPshot | rs80356486 |
| SNPdbe | rs80356486 |
| MSV3d | rs80356486 |
| GWAS Ctlg | rs80356486 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356486(-;-) Rs80356486(CTT;CTT) rs80356486(TCT;TCT) |
| Alt | rs80356486(-;-) Rs80356486(CTT;CTT) rs80356486(TCT;TCT) |
| Reference | Rs80356486(TTC;TTC) |
| 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.41063349_41063351delTCT |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000409898.1, |
