rs113993954
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs113993954(A;A) |
| Make rs113993954(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 149504185 |
| Gene | IDS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113993954 |
| dbSNP (classic) | rs113993954 |
| ClinGen | rs113993954 |
| ebi | rs113993954 |
| HLI | rs113993954 |
| Exac | rs113993954 |
| Gnomad | rs113993954 |
| Varsome | rs113993954 |
| LitVar | rs113993954 |
| Map | rs113993954 |
| PheGenI | rs113993954 |
| Biobank | rs113993954 |
| 1000 genomes | rs113993954 |
| hgdp | rs113993954 |
| ensembl | rs113993954 |
| geneview | rs113993954 |
| scholar | rs113993954 |
| rs113993954 | |
| pharmgkb | rs113993954 |
| gwascentral | rs113993954 |
| openSNP | rs113993954 |
| 23andMe | rs113993954 |
| SNPshot | rs113993954 |
| SNPdbe | rs113993954 |
| MSV3d | rs113993954 |
| GWAS Ctlg | rs113993954 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs113993954(A;A) |
| Alt | rs113993954(A;A) |
| Reference | Rs113993954(G;G) |
| Significance | Pathogenic |
| Disease | Mucopolysaccharidosis |
| Variation | info |
| Gene | IDS |
| CLNDBN | Mucopolysaccharidosis, MPS-II |
| Reversed | 1 |
| HGVS | NC_000023.10:g.148585715C>T |
| CLNSRC | |
| CLNACC | |
