rs281864953
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs281864953(G;T) |
| Make rs281864953(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 101790019 |
| Gene | GNPTAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281864953 |
| dbSNP (classic) | rs281864953 |
| ClinGen | rs281864953 |
| ebi | rs281864953 |
| HLI | rs281864953 |
| Exac | rs281864953 |
| Gnomad | rs281864953 |
| Varsome | rs281864953 |
| LitVar | rs281864953 |
| Map | rs281864953 |
| PheGenI | rs281864953 |
| Biobank | rs281864953 |
| 1000 genomes | rs281864953 |
| hgdp | rs281864953 |
| ensembl | rs281864953 |
| geneview | rs281864953 |
| scholar | rs281864953 |
| rs281864953 | |
| pharmgkb | rs281864953 |
| gwascentral | rs281864953 |
| openSNP | rs281864953 |
| 23andMe | rs281864953 |
| SNPshot | rs281864953 |
| SNPdbe | rs281864953 |
| MSV3d | rs281864953 |
| GWAS Ctlg | rs281864953 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs281864953(T;T) |
| Alt | rs281864953(T;T) |
| Reference | Rs281864953(G;G) |
| Significance | Pathogenic |
| Disease | Pseudo-Hurler polydystrophy |
| Variation | info |
| Gene | GNPTAB |
| CLNDBN | Pseudo-Hurler polydystrophy |
| Reversed | 1 |
| HGVS | NC_000012.11:g.102183797C>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000032318.1, |
[PMID 19659762] Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.
