rs137852317
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 | 154532411 |
| Gene | G6PD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137852317 |
| dbSNP (classic) | rs137852317 |
| ClinGen | rs137852317 |
| ebi | rs137852317 |
| HLI | rs137852317 |
| Exac | rs137852317 |
| Gnomad | rs137852317 |
| Varsome | rs137852317 |
| LitVar | rs137852317 |
| Map | rs137852317 |
| PheGenI | rs137852317 |
| Biobank | rs137852317 |
| 1000 genomes | rs137852317 |
| hgdp | rs137852317 |
| ensembl | rs137852317 |
| geneview | rs137852317 |
| scholar | rs137852317 |
| rs137852317 | |
| pharmgkb | rs137852317 |
| gwascentral | rs137852317 |
| openSNP | rs137852317 |
| 23andMe | rs137852317 |
| SNPshot | rs137852317 |
| SNPdbe | rs137852317 |
| MSV3d | rs137852317 |
| GWAS Ctlg | rs137852317 |
| Max Magnitude | 5 |
23andMe name: i6010588
| ClinVar | |
|---|---|
| Risk | Rs137852317(A;A) |
| Alt | Rs137852317(A;A) |
| Reference | Rs137852317(G;G) |
| Significance | Other |
| Disease | G6PD SANTIAGO DE CUBA Anemia not provided |
| Variation | info |
| Gene | G6PD |
| CLNDBN | G6PD SANTIAGO DE CUBA Anemia, nonspherocytic hemolytic, due to G6PD deficiency not provided |
| Reversed | 1 |
| HGVS | NC_000023.10:g.153760626C>T |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000011091.4, RCV000066233.6, RCV000079395.3, |
