rs9530
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs9530(C;C) |
| Make rs9530(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 65960907 |
| Gene | GUSB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9530 |
| dbSNP (classic) | rs9530 |
| ClinGen | rs9530 |
| ebi | rs9530 |
| HLI | rs9530 |
| Exac | rs9530 |
| Gnomad | rs9530 |
| Varsome | rs9530 |
| LitVar | rs9530 |
| Map | rs9530 |
| PheGenI | rs9530 |
| Biobank | rs9530 |
| 1000 genomes | rs9530 |
| hgdp | rs9530 |
| ensembl | rs9530 |
| geneview | rs9530 |
| scholar | rs9530 |
| rs9530 | |
| pharmgkb | rs9530 |
| gwascentral | rs9530 |
| openSNP | rs9530 |
| 23andMe | rs9530 |
| SNPshot | rs9530 |
| SNPdbe | rs9530 |
| MSV3d | rs9530 |
| GWAS Ctlg | rs9530 |
| GMAF | 0.4183 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs9530(C;C) |
| Alt | rs9530(C;C) |
| Reference | Rs9530(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Mucopolysaccharidosis type VII |
| Variation | info |
| Gene | GUSB |
| CLNDBN | not specified Mucopolysaccharidosis type VII |
| Reversed | 1 |
| HGVS | NC_000007.13:g.65425894A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000078327.5, RCV000394365.1, |
