rs5030869
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | G6PD deficiency |
| (A;G) | 3 | Carrier of G6PD deficiency mutation; variable expressivity |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 154532990 |
| Gene | G6PD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5030869 |
| dbSNP (classic) | rs5030869 |
| ClinGen | rs5030869 |
| ebi | rs5030869 |
| HLI | rs5030869 |
| Exac | rs5030869 |
| Gnomad | rs5030869 |
| Varsome | rs5030869 |
| LitVar | rs5030869 |
| Map | rs5030869 |
| PheGenI | rs5030869 |
| Biobank | rs5030869 |
| 1000 genomes | rs5030869 |
| hgdp | rs5030869 |
| ensembl | rs5030869 |
| geneview | rs5030869 |
| scholar | rs5030869 |
| rs5030869 | |
| pharmgkb | rs5030869 |
| gwascentral | rs5030869 |
| openSNP | rs5030869 |
| 23andMe | rs5030869 |
| SNPshot | rs5030869 |
| SNPdbe | rs5030869 |
| MSV3d | rs5030869 |
| GWAS Ctlg | rs5030869 |
| Max Magnitude | 5 |
23andMe name: i3003411
| ClinVar | |
|---|---|
| Risk | Rs5030869(A;A) |
| Alt | Rs5030869(A;A) |
| Reference | Rs5030869(G;G) |
| Significance | Other |
| Disease | G6PD CHATHAM not provided Anemia |
| Variation | info |
| Gene | G6PD |
| CLNDBN | G6PD CHATHAM not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| Reversed | 1 |
| HGVS | NC_000023.10:g.153761205C>T |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000011081.4, RCV000153283.2, RCV000180546.1, |
