rs797044782
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs797044782(G;G) |
| Make rs797044782(G;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | X |
| Position | 149487106 |
| Gene | IDS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs797044782 |
| dbSNP (classic) | rs797044782 |
| ClinGen | rs797044782 |
| ebi | rs797044782 |
| HLI | rs797044782 |
| Exac | rs797044782 |
| Gnomad | rs797044782 |
| Varsome | rs797044782 |
| LitVar | rs797044782 |
| Map | rs797044782 |
| PheGenI | rs797044782 |
| Biobank | rs797044782 |
| 1000 genomes | rs797044782 |
| hgdp | rs797044782 |
| ensembl | rs797044782 |
| geneview | rs797044782 |
| scholar | rs797044782 |
| rs797044782 | |
| pharmgkb | rs797044782 |
| gwascentral | rs797044782 |
| openSNP | rs797044782 |
| 23andMe | rs797044782 |
| SNPshot | rs797044782 |
| SNPdbe | rs797044782 |
| MSV3d | rs797044782 |
| GWAS Ctlg | rs797044782 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs797044782(G;G) |
| Alt | rs797044782(G;G) |
| Reference | Rs797044782(T;T) |
| Significance | Pathogenic |
| Disease | Mucopolysaccharidosis |
| Variation | info |
| Gene | IDS |
| CLNDBN | Mucopolysaccharidosis, MPS-II |
| Reversed | 1 |
| HGVS | NC_000023.10:g.148568637A>C |
| CLNSRC | |
| CLNACC | RCV000180107.1, |
