rs386833423
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs386833423(C;T) |
| Make rs386833423(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 177439624 |
| Gene | AGA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833423 |
| dbSNP (classic) | rs386833423 |
| ClinGen | rs386833423 |
| ebi | rs386833423 |
| HLI | rs386833423 |
| Exac | rs386833423 |
| Gnomad | rs386833423 |
| Varsome | rs386833423 |
| LitVar | rs386833423 |
| Map | rs386833423 |
| PheGenI | rs386833423 |
| Biobank | rs386833423 |
| 1000 genomes | rs386833423 |
| hgdp | rs386833423 |
| ensembl | rs386833423 |
| geneview | rs386833423 |
| scholar | rs386833423 |
| rs386833423 | |
| pharmgkb | rs386833423 |
| gwascentral | rs386833423 |
| openSNP | rs386833423 |
| 23andMe | rs386833423 |
| SNPshot | rs386833423 |
| SNPdbe | rs386833423 |
| MSV3d | rs386833423 |
| GWAS Ctlg | rs386833423 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386833423(T;T) |
| Alt | rs386833423(T;T) |
| Reference | Rs386833423(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Aspartylglycosaminuria |
| Variation | info |
| Gene | AGA |
| CLNDBN | Aspartylglycosaminuria |
| Reversed | 1 |
| HGVS | NC_000004.11:g.178360778G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000049351.1, |
[PMID 23271757] Aspartylglucosaminuria: unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.
