rs193302911
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | Carrier of a MPS II mutation; note X-linkage |
| (C;C) | 0 | common in clinvar |
| Make rs193302911(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 149503371 |
| Gene | IDS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193302911 |
| dbSNP (classic) | rs193302911 |
| ClinGen | rs193302911 |
| ebi | rs193302911 |
| HLI | rs193302911 |
| Exac | rs193302911 |
| Gnomad | rs193302911 |
| Varsome | rs193302911 |
| LitVar | rs193302911 |
| Map | rs193302911 |
| PheGenI | rs193302911 |
| Biobank | rs193302911 |
| 1000 genomes | rs193302911 |
| hgdp | rs193302911 |
| ensembl | rs193302911 |
| geneview | rs193302911 |
| scholar | rs193302911 |
| rs193302911 | |
| pharmgkb | rs193302911 |
| gwascentral | rs193302911 |
| openSNP | rs193302911 |
| 23andMe | rs193302911 |
| SNPshot | rs193302911 |
| SNPdbe | rs193302911 |
| MSV3d | rs193302911 |
| GWAS Ctlg | rs193302911 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs193302911(A;A) |
| Alt | rs193302911(A;A) |
| Reference | Rs193302911(C;C) |
| Significance | Pathogenic |
| Disease | Mucopolysaccharidosis |
| Variation | info |
| Gene | IDS |
| CLNDBN | Mucopolysaccharidosis, MPS-II |
| Reversed | 1 |
| HGVS | NC_000023.10:g.148584901G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000205759.1, |
