rs769967246
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs769967246(C;T) |
| Make rs769967246(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 19 |
| Position | 1105456 |
| Gene | GPX4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs769967246 |
| dbSNP (classic) | rs769967246 |
| ClinGen | rs769967246 |
| ebi | rs769967246 |
| HLI | rs769967246 |
| Exac | rs769967246 |
| Gnomad | rs769967246 |
| Varsome | rs769967246 |
| LitVar | rs769967246 |
| Map | rs769967246 |
| PheGenI | rs769967246 |
| Biobank | rs769967246 |
| 1000 genomes | rs769967246 |
| hgdp | rs769967246 |
| ensembl | rs769967246 |
| geneview | rs769967246 |
| scholar | rs769967246 |
| rs769967246 | |
| pharmgkb | rs769967246 |
| gwascentral | rs769967246 |
| openSNP | rs769967246 |
| 23andMe | rs769967246 |
| SNPshot | rs769967246 |
| SNPdbe | rs769967246 |
| MSV3d | rs769967246 |
| GWAS Ctlg | rs769967246 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs769967246(A;A) rs769967246(T;T) |
| Alt | rs769967246(A;A) rs769967246(T;T) |
| Reference | Rs769967246(C;C) |
| Significance | Pathogenic |
| Disease | Spondylometaphyseal dysplasia Sedaghatian type |
| Variation | info |
| Gene | GPX4 |
| CLNDBN | Spondylometaphyseal dysplasia Sedaghatian type |
| Reversed | 0 |
| HGVS | NC_000019.9:g.1105455C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000128833.4, |
