rs112029032
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs112029032(A;A) |
| Make rs112029032(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 8 |
| Position | 43199504 |
| Gene | HGSNAT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs112029032 |
| dbSNP (classic) | rs112029032 |
| ClinGen | rs112029032 |
| ebi | rs112029032 |
| HLI | rs112029032 |
| Exac | rs112029032 |
| Gnomad | rs112029032 |
| Varsome | rs112029032 |
| LitVar | rs112029032 |
| Map | rs112029032 |
| PheGenI | rs112029032 |
| Biobank | rs112029032 |
| 1000 genomes | rs112029032 |
| hgdp | rs112029032 |
| ensembl | rs112029032 |
| geneview | rs112029032 |
| scholar | rs112029032 |
| rs112029032 | |
| pharmgkb | rs112029032 |
| gwascentral | rs112029032 |
| openSNP | rs112029032 |
| 23andMe | rs112029032 |
| SNPshot | rs112029032 |
| SNPdbe | rs112029032 |
| MSV3d | rs112029032 |
| GWAS Ctlg | rs112029032 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs112029032(A;A) |
| Alt | rs112029032(A;A) |
| Reference | Rs112029032(G;G) |
| Significance | Pathogenic |
| Disease | Retinitis pigmentosa 73 Mucopolysaccharidosis not provided |
| Variation | info |
| Gene | HGSNAT LOC101929678 |
| CLNDBN | Retinitis pigmentosa 73 Mucopolysaccharidosis, MPS-III-C not provided |
| Reversed | 0 |
| HGVS | NC_000008.10:g.43054647G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000190844.3, RCV000190845.3, RCV000224674.1, |
