rs199422228
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 3 | Carrier of a MPS II mutation; note X-linkage |
| (G;G) | 0 | common in clinvar |
| Make rs199422228(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 149482894 |
| Gene | IDS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199422228 |
| dbSNP (classic) | rs199422228 |
| ClinGen | rs199422228 |
| ebi | rs199422228 |
| HLI | rs199422228 |
| Exac | rs199422228 |
| Gnomad | rs199422228 |
| Varsome | rs199422228 |
| LitVar | rs199422228 |
| Map | rs199422228 |
| PheGenI | rs199422228 |
| Biobank | rs199422228 |
| 1000 genomes | rs199422228 |
| hgdp | rs199422228 |
| ensembl | rs199422228 |
| geneview | rs199422228 |
| scholar | rs199422228 |
| rs199422228 | |
| pharmgkb | rs199422228 |
| gwascentral | rs199422228 |
| openSNP | rs199422228 |
| 23andMe | rs199422228 |
| SNPshot | rs199422228 |
| SNPdbe | rs199422228 |
| MSV3d | rs199422228 |
| GWAS Ctlg | rs199422228 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs199422228(C;C) |
| Alt | rs199422228(C;C) |
| Reference | Rs199422228(G;G) |
| Significance | Pathogenic |
| Disease | Mucopolysaccharidosis |
| Variation | info |
| Gene | IDS |
| CLNDBN | Mucopolysaccharidosis, MPS-II |
| Reversed | 1 |
| HGVS | NC_000023.10:g.148564425C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000011234.5, |
