rs398123546
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of G6PD deficiency mutation; variable expressivity |
| (T;T) | 5 | G6PD deficiency |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 154532390 |
| Gene | G6PD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123546 |
| dbSNP (classic) | rs398123546 |
| ClinGen | rs398123546 |
| ebi | rs398123546 |
| HLI | rs398123546 |
| Exac | rs398123546 |
| Gnomad | rs398123546 |
| Varsome | rs398123546 |
| LitVar | rs398123546 |
| Map | rs398123546 |
| PheGenI | rs398123546 |
| Biobank | rs398123546 |
| 1000 genomes | rs398123546 |
| hgdp | rs398123546 |
| ensembl | rs398123546 |
| geneview | rs398123546 |
| scholar | rs398123546 |
| rs398123546 | |
| pharmgkb | rs398123546 |
| gwascentral | rs398123546 |
| openSNP | rs398123546 |
| 23andMe | rs398123546 |
| SNPshot | rs398123546 |
| SNPdbe | rs398123546 |
| MSV3d | rs398123546 |
| GWAS Ctlg | rs398123546 |
| Max Magnitude | 5 |
aka c.1360C>T, c.1450C>T (p.Arg484Cys or R484C)
| ClinVar | |
|---|---|
| Risk | Rs398123546(T;T) |
| Alt | Rs398123546(T;T) |
| Reference | Rs398123546(C;C) |
| Significance | Pathogenic |
| Disease | not provided Favism Anemia |
| Variation | info |
| Gene | G6PD |
| CLNDBN | not provided Favism, susceptibility to Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| Reversed | 1 |
| HGVS | NC_000023.10:g.153760605G>A |
| CLNSRC | HGMD |
| CLNACC | RCV000079396.4, RCV000174031.1, RCV000174032.1, |
