rs374621913
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs374621913(A;A) |
| Make rs374621913(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 17 |
| Position | 80213852 |
| Gene | SGSH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs374621913 |
| dbSNP (classic) | rs374621913 |
| ClinGen | rs374621913 |
| ebi | rs374621913 |
| HLI | rs374621913 |
| Exac | rs374621913 |
| Gnomad | rs374621913 |
| Varsome | rs374621913 |
| LitVar | rs374621913 |
| Map | rs374621913 |
| PheGenI | rs374621913 |
| Biobank | rs374621913 |
| 1000 genomes | rs374621913 |
| hgdp | rs374621913 |
| ensembl | rs374621913 |
| geneview | rs374621913 |
| scholar | rs374621913 |
| rs374621913 | |
| pharmgkb | rs374621913 |
| gwascentral | rs374621913 |
| openSNP | rs374621913 |
| 23andMe | rs374621913 |
| SNPshot | rs374621913 |
| SNPdbe | rs374621913 |
| MSV3d | rs374621913 |
| GWAS Ctlg | rs374621913 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs374621913(A;A) rs374621913(C;C) |
| Alt | rs374621913(A;A) rs374621913(C;C) |
| Reference | Rs374621913(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Mucopolysaccharidosis |
| Variation | info |
| Gene | SGSH |
| CLNDBN | Mucopolysaccharidosis, MPS-III-A |
| Reversed | 0 |
| HGVS | NC_000017.10:g.78187651G>A |
| CLNSRC | |
| CLNACC | RCV000409562.1, |
