rs34159654
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs34159654(A;C) |
| Make rs34159654(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 101830666 |
| Gene | GNPTAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34159654 |
| dbSNP (classic) | rs34159654 |
| ClinGen | rs34159654 |
| ebi | rs34159654 |
| HLI | rs34159654 |
| Exac | rs34159654 |
| Gnomad | rs34159654 |
| Varsome | rs34159654 |
| LitVar | rs34159654 |
| Map | rs34159654 |
| PheGenI | rs34159654 |
| Biobank | rs34159654 |
| 1000 genomes | rs34159654 |
| hgdp | rs34159654 |
| ensembl | rs34159654 |
| geneview | rs34159654 |
| scholar | rs34159654 |
| rs34159654 | |
| pharmgkb | rs34159654 |
| gwascentral | rs34159654 |
| openSNP | rs34159654 |
| 23andMe | rs34159654 |
| SNPshot | rs34159654 |
| SNPdbe | rs34159654 |
| MSV3d | rs34159654 |
| GWAS Ctlg | rs34159654 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34159654(C;C) |
| Alt | rs34159654(C;C) |
| Reference | Rs34159654(A;A) |
| Significance | Pathogenic |
| Disease | Pseudo-Hurler polydystrophy Mucopolysaccharidosis |
| Variation | info |
| Gene | GNPTAB |
| CLNDBN | Pseudo-Hurler polydystrophy Mucopolysaccharidosis, MPS-III-A |
| Reversed | 1 |
| HGVS | NC_000012.11:g.102224444T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002903.3, RCV000031965.2, |
[PMID 16465621
] Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
