rs104894643
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 3 | Carrier of a Sanfilippo syndrome type A mutation |
| (G;G) | 0 | common in clinvar |
| Make rs104894643(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 80214218 |
| Gene | SGSH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894643 |
| dbSNP (classic) | rs104894643 |
| ClinGen | rs104894643 |
| ebi | rs104894643 |
| HLI | rs104894643 |
| Exac | rs104894643 |
| Gnomad | rs104894643 |
| Varsome | rs104894643 |
| LitVar | rs104894643 |
| Map | rs104894643 |
| PheGenI | rs104894643 |
| Biobank | rs104894643 |
| 1000 genomes | rs104894643 |
| hgdp | rs104894643 |
| ensembl | rs104894643 |
| geneview | rs104894643 |
| scholar | rs104894643 |
| rs104894643 | |
| pharmgkb | rs104894643 |
| gwascentral | rs104894643 |
| openSNP | rs104894643 |
| 23andMe | rs104894643 |
| SNPshot | rs104894643 |
| SNPdbe | rs104894643 |
| MSV3d | rs104894643 |
| GWAS Ctlg | rs104894643 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs104894643(A;A) rs104894643(C;C) |
| Alt | rs104894643(A;A) rs104894643(C;C) |
| Reference | Rs104894643(G;G) |
| Significance | Pathogenic |
| Disease | Mucopolysaccharidosis |
| Variation | info |
| Gene | SGSH |
| CLNDBN | Mucopolysaccharidosis, MPS-III-A |
| Reversed | 1 |
| HGVS | NC_000017.10:g.78188017C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005425.4, |
