rs74575103
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 2 | Carrier of a G6PD variant likely to benign |
| (T;T) | 2 | Probably benign; slight chance of G6PD deficiency |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | X |
| Position | 154533586 |
| Gene | G6PD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74575103 |
| dbSNP (classic) | rs74575103 |
| ClinGen | rs74575103 |
| ebi | rs74575103 |
| HLI | rs74575103 |
| Exac | rs74575103 |
| Gnomad | rs74575103 |
| Varsome | rs74575103 |
| LitVar | rs74575103 |
| Map | rs74575103 |
| PheGenI | rs74575103 |
| Biobank | rs74575103 |
| 1000 genomes | rs74575103 |
| hgdp | rs74575103 |
| ensembl | rs74575103 |
| geneview | rs74575103 |
| scholar | rs74575103 |
| rs74575103 | |
| pharmgkb | rs74575103 |
| gwascentral | rs74575103 |
| openSNP | rs74575103 |
| 23andMe | rs74575103 |
| SNPshot | rs74575103 |
| SNPdbe | rs74575103 |
| MSV3d | rs74575103 |
| GWAS Ctlg | rs74575103 |
| Max Magnitude | 2 |
aka c.944G>A (p.Arg315His, R315H)
Annotated in ClinVar as benign; described in OMIM as having "nearly normal properties"
23andMe name: i5053909
FTDNA & MyHeritage name: VGXS34738
| ClinVar | |
|---|---|
| Risk | Rs74575103(T;T) |
| Alt | Rs74575103(T;T) |
| Reference | Rs74575103(C;C) |
| Significance | Non-pathogenic |
| Disease | Glucose 6 phosphate dehydrogenase deficiency |
| Variation | info |
| Gene | G6PD |
| CLNDBN | Glucose 6 phosphate dehydrogenase deficiency |
| Reversed | 0 |
| HGVS | NC_000023.10:g.153761801C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000011080.3, |
