rs398123358
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs398123358(C;C) |
| Make rs398123358(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 33097010 |
| Gene | GLB1, TMPPE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123358 |
| dbSNP (classic) | rs398123358 |
| ClinGen | rs398123358 |
| ebi | rs398123358 |
| HLI | rs398123358 |
| Exac | rs398123358 |
| Gnomad | rs398123358 |
| Varsome | rs398123358 |
| LitVar | rs398123358 |
| Map | rs398123358 |
| PheGenI | rs398123358 |
| Biobank | rs398123358 |
| 1000 genomes | rs398123358 |
| hgdp | rs398123358 |
| ensembl | rs398123358 |
| geneview | rs398123358 |
| scholar | rs398123358 |
| rs398123358 | |
| pharmgkb | rs398123358 |
| gwascentral | rs398123358 |
| openSNP | rs398123358 |
| 23andMe | rs398123358 |
| SNPshot | rs398123358 |
| SNPdbe | rs398123358 |
| MSV3d | rs398123358 |
| GWAS Ctlg | rs398123358 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs398123358(C;C) |
| Alt | rs398123358(C;C) |
| Reference | Rs398123358(G;G) |
| Significance | Pathogenic |
| Disease | not provided Mucopolysaccharidosis Infantile GM1 gangliosidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 |
| Variation | info |
| Gene | TMPPE GLB1 |
| CLNDBN | not provided Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 |
| Reversed | 1 |
| HGVS | NC_000003.11:g.33138502C>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000078721.3, RCV000173118.1, RCV000173119.1, RCV000173120.1, RCV000173121.1, |
