rs398123440
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation |
| (C;C) | 0 | common in clinvar |
| Make rs398123440(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 88835779 |
| Gene | GALNS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123440 |
| dbSNP (classic) | rs398123440 |
| ClinGen | rs398123440 |
| ebi | rs398123440 |
| HLI | rs398123440 |
| Exac | rs398123440 |
| Gnomad | rs398123440 |
| Varsome | rs398123440 |
| LitVar | rs398123440 |
| Map | rs398123440 |
| PheGenI | rs398123440 |
| Biobank | rs398123440 |
| 1000 genomes | rs398123440 |
| hgdp | rs398123440 |
| ensembl | rs398123440 |
| geneview | rs398123440 |
| scholar | rs398123440 |
| rs398123440 | |
| pharmgkb | rs398123440 |
| gwascentral | rs398123440 |
| openSNP | rs398123440 |
| 23andMe | rs398123440 |
| SNPshot | rs398123440 |
| SNPdbe | rs398123440 |
| MSV3d | rs398123440 |
| GWAS Ctlg | rs398123440 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs398123440(A;A) rs398123440(T;T) |
| Alt | rs398123440(A;A) rs398123440(T;T) |
| Reference | Rs398123440(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided Mucopolysaccharidosis |
| Variation | info |
| Gene | GALNS |
| CLNDBN | not provided Mucopolysaccharidosis, MPS-IV-A |
| Reversed | 1 |
| HGVS | NC_000016.9:g.88902187G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000079042.3, RCV000179764.1, |
