rs28938472
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a glutathione synthetase deficiency mutation |
| Make rs28938472(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 34936976 |
| Gene | GSS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28938472 |
| dbSNP (classic) | rs28938472 |
| ClinGen | rs28938472 |
| ebi | rs28938472 |
| HLI | rs28938472 |
| Exac | rs28938472 |
| Gnomad | rs28938472 |
| Varsome | rs28938472 |
| LitVar | rs28938472 |
| Map | rs28938472 |
| PheGenI | rs28938472 |
| Biobank | rs28938472 |
| 1000 genomes | rs28938472 |
| hgdp | rs28938472 |
| ensembl | rs28938472 |
| geneview | rs28938472 |
| scholar | rs28938472 |
| rs28938472 | |
| pharmgkb | rs28938472 |
| gwascentral | rs28938472 |
| openSNP | rs28938472 |
| 23andMe | rs28938472 |
| SNPshot | rs28938472 |
| SNPdbe | rs28938472 |
| MSV3d | rs28938472 |
| GWAS Ctlg | rs28938472 |
| Max Magnitude | 3 |
| OMIM | 601002 |
| Desc | GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO |
| Variant | 0007 |
| Related | also |
| ClinVar | |
|---|---|
| Risk | rs28938472(G;G) |
| Alt | rs28938472(G;G) |
| Reference | Rs28938472(A;A) |
| Significance | Pathogenic |
| Disease | Glutathione synthetase deficiency of erythrocytes |
| Variation | info |
| Gene | GSS |
| CLNDBN | Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to |
| Reversed | 1 |
| HGVS | NC_000020.10:g.33524779T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009057.3, |
