rs886042073
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Chromosome | 17 |
| Position | 42538692 |
| Gene | NAGLU |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886042073 |
| dbSNP (classic) | rs886042073 |
| ClinGen | rs886042073 |
| ebi | rs886042073 |
| HLI | rs886042073 |
| Exac | rs886042073 |
| Gnomad | rs886042073 |
| Varsome | rs886042073 |
| LitVar | rs886042073 |
| Map | rs886042073 |
| PheGenI | rs886042073 |
| Biobank | rs886042073 |
| 1000 genomes | rs886042073 |
| hgdp | rs886042073 |
| ensembl | rs886042073 |
| geneview | rs886042073 |
| scholar | rs886042073 |
| rs886042073 | |
| pharmgkb | rs886042073 |
| gwascentral | rs886042073 |
| openSNP | rs886042073 |
| 23andMe | rs886042073 |
| SNPshot | rs886042073 |
| SNPdbe | rs886042073 |
| MSV3d | rs886042073 |
| GWAS Ctlg | rs886042073 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886042073(C;C) |
| Alt | rs886042073(C;C) |
| Reference | Rs886042073(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Mucopolysaccharidosis |
| Variation | info |
| Gene | NAGLU |
| CLNDBN | Mucopolysaccharidosis, MPS-III-B |
| Reversed | 0 |
| HGVS | NC_000017.10:g.40690710G>C |
| CLNSRC | |
| CLNACC | RCV000341295.1, |
