rs483352904
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CA;CA) | 0 | common in clinvar |
| Make rs483352904(-;-) |
| Make rs483352904(-;CA) |
| Reference | GRCh38 38.1/142 |
| Chromosome | X |
| Position | 149498305 |
| Gene | IDS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs483352904 |
| dbSNP (classic) | rs483352904 |
| ClinGen | rs483352904 |
| ebi | rs483352904 |
| HLI | rs483352904 |
| Exac | rs483352904 |
| Gnomad | rs483352904 |
| Varsome | rs483352904 |
| LitVar | rs483352904 |
| Map | rs483352904 |
| PheGenI | rs483352904 |
| Biobank | rs483352904 |
| 1000 genomes | rs483352904 |
| hgdp | rs483352904 |
| ensembl | rs483352904 |
| geneview | rs483352904 |
| scholar | rs483352904 |
| rs483352904 | |
| pharmgkb | rs483352904 |
| gwascentral | rs483352904 |
| openSNP | rs483352904 |
| 23andMe | rs483352904 |
| SNPshot | rs483352904 |
| SNPdbe | rs483352904 |
| MSV3d | rs483352904 |
| GWAS Ctlg | rs483352904 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs483352904(-;-) |
| Alt | rs483352904(-;-) |
| Reference | Rs483352904(CA;CA) |
| Significance | Pathogenic |
| Disease | Mucopolysaccharidosis |
| Variation | info |
| Gene | IDS |
| CLNDBN | Mucopolysaccharidosis, MPS-II |
| Reversed | 1 |
| HGVS | NC_000023.10:g.148579836_148579837delTG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000011242.3, |
