rs2228119
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (G;G) | 0 | common in complete genomics |
| Make rs2228119(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 177438806 |
| Gene | AGA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2228119 |
| dbSNP (classic) | rs2228119 |
| ClinGen | rs2228119 |
| ebi | rs2228119 |
| HLI | rs2228119 |
| Exac | rs2228119 |
| Gnomad | rs2228119 |
| Varsome | rs2228119 |
| LitVar | rs2228119 |
| Map | rs2228119 |
| PheGenI | rs2228119 |
| Biobank | rs2228119 |
| 1000 genomes | rs2228119 |
| hgdp | rs2228119 |
| ensembl | rs2228119 |
| geneview | rs2228119 |
| scholar | rs2228119 |
| rs2228119 | |
| pharmgkb | rs2228119 |
| gwascentral | rs2228119 |
| openSNP | rs2228119 |
| 23andMe | rs2228119 |
| SNPshot | rs2228119 |
| SNPdbe | rs2228119 |
| MSV3d | rs2228119 |
| GWAS Ctlg | rs2228119 |
| GMAF | 0.06566 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs2228119(G;G) |
| Alt | Rs2228119(G;G) |
| Reference | Rs2228119(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Aspartylglycosaminuria |
| Variation | info |
| Gene | AGA |
| CLNDBN | not specified Aspartylglycosaminuria |
| Reversed | 1 |
| HGVS | NC_000004.11:g.178359960G>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000077944.5, RCV000394488.1, |
