rs794729202
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 3 | Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation |
| (T;T) | 0 | common in clinvar |
| Make rs794729202(A;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 88856831 |
| Gene | GALNS, LOC107983950, TRAPPC2L |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794729202 |
| dbSNP (classic) | rs794729202 |
| ClinGen | rs794729202 |
| ebi | rs794729202 |
| HLI | rs794729202 |
| Exac | rs794729202 |
| Gnomad | rs794729202 |
| Varsome | rs794729202 |
| LitVar | rs794729202 |
| Map | rs794729202 |
| PheGenI | rs794729202 |
| Biobank | rs794729202 |
| 1000 genomes | rs794729202 |
| hgdp | rs794729202 |
| ensembl | rs794729202 |
| geneview | rs794729202 |
| scholar | rs794729202 |
| rs794729202 | |
| pharmgkb | rs794729202 |
| gwascentral | rs794729202 |
| openSNP | rs794729202 |
| 23andMe | rs794729202 |
| SNPshot | rs794729202 |
| SNPdbe | rs794729202 |
| MSV3d | rs794729202 |
| GWAS Ctlg | rs794729202 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs794729202(A;A) |
| Alt | rs794729202(A;A) |
| Reference | Rs794729202(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Mucopolysaccharidosis |
| Variation | info |
| Gene | GALNS TRAPPC2L |
| CLNDBN | Mucopolysaccharidosis, MPS-IV-A |
| Reversed | 1 |
| HGVS | NC_000016.9:g.88923239A>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000184021.1, |
