rs34520362
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a Sanfilippo syndrome type A mutation |
| (G;G) | 0 | common in clinvar |
| Make rs34520362(A;A) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 17 |
| Position | 80213874 |
| Gene | SGSH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34520362 |
| dbSNP (classic) | rs34520362 |
| ClinGen | rs34520362 |
| ebi | rs34520362 |
| HLI | rs34520362 |
| Exac | rs34520362 |
| Gnomad | rs34520362 |
| Varsome | rs34520362 |
| LitVar | rs34520362 |
| Map | rs34520362 |
| PheGenI | rs34520362 |
| Biobank | rs34520362 |
| 1000 genomes | rs34520362 |
| hgdp | rs34520362 |
| ensembl | rs34520362 |
| geneview | rs34520362 |
| scholar | rs34520362 |
| rs34520362 | |
| pharmgkb | rs34520362 |
| gwascentral | rs34520362 |
| openSNP | rs34520362 |
| 23andMe | rs34520362 |
| SNPshot | rs34520362 |
| SNPdbe | rs34520362 |
| MSV3d | rs34520362 |
| GWAS Ctlg | rs34520362 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs34520362(A;A) rs34520362(C;C) |
| Alt | rs34520362(A;A) rs34520362(C;C) |
| Reference | Rs34520362(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | SGSH |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.78187673G>C |
| CLNSRC | |
| CLNACC | RCV000224603.1, |
