rs886043347
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Chromosome | 4 |
| Position | 1004329 |
| Gene | IDUA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886043347 |
| dbSNP (classic) | rs886043347 |
| ClinGen | rs886043347 |
| ebi | rs886043347 |
| HLI | rs886043347 |
| Exac | rs886043347 |
| Gnomad | rs886043347 |
| Varsome | rs886043347 |
| LitVar | rs886043347 |
| Map | rs886043347 |
| PheGenI | rs886043347 |
| Biobank | rs886043347 |
| 1000 genomes | rs886043347 |
| hgdp | rs886043347 |
| ensembl | rs886043347 |
| geneview | rs886043347 |
| scholar | rs886043347 |
| rs886043347 | |
| pharmgkb | rs886043347 |
| gwascentral | rs886043347 |
| openSNP | rs886043347 |
| 23andMe | rs886043347 |
| SNPshot | rs886043347 |
| SNPdbe | rs886043347 |
| MSV3d | rs886043347 |
| GWAS Ctlg | rs886043347 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886043347(G;G) |
| Alt | rs886043347(G;G) |
| Reference | Rs886043347(C;C) |
| Significance | Pathogenic |
| Disease | Hurler syndrome |
| Variation | info |
| Gene | IDUA |
| CLNDBN | Hurler syndrome |
| Reversed | 0 |
| HGVS | NC_000004.11:g.998117C>G |
| CLNSRC | |
| CLNACC | RCV000323838.1, |
