rs770947426
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 8 | Sanfilippo syndrome type A |
| (-;G) | 3 | Carrier for a Sanfilippo syndrome type A mutation |
| (G;G) | 0 | common/normal |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 17 |
| Position | 80210881 |
| Gene | SGSH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs770947426 |
| dbSNP (classic) | rs770947426 |
| ClinGen | rs770947426 |
| ebi | rs770947426 |
| HLI | rs770947426 |
| Exac | rs770947426 |
| Gnomad | rs770947426 |
| Varsome | rs770947426 |
| LitVar | rs770947426 |
| Map | rs770947426 |
| PheGenI | rs770947426 |
| Biobank | rs770947426 |
| 1000 genomes | rs770947426 |
| hgdp | rs770947426 |
| ensembl | rs770947426 |
| geneview | rs770947426 |
| scholar | rs770947426 |
| rs770947426 | |
| pharmgkb | rs770947426 |
| gwascentral | rs770947426 |
| openSNP | rs770947426 |
| 23andMe | rs770947426 |
| SNPshot | rs770947426 |
| SNPdbe | rs770947426 |
| MSV3d | rs770947426 |
| GWAS Ctlg | rs770947426 |
| Max Magnitude | 8 |
rs770947426, also known as c.1080delC, represents a rare mutation in the SGSH gene on chromosome 17.
Although still rare, the c.1080delC mutation is considered the most frequent of the pathogenic mutations associated with Sanfilippo syndrome type A, a recessively inherited disorder also known as mucopolysaccharidosis type IIIA (MPS3A).[PMID 21061399]
