rs28936676
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 3 | Variegate porphyria carrier |
| (C;C) | 3.5 | Variegate porphyria |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 161170467 |
| Gene | PPOX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28936676 |
| dbSNP (classic) | rs28936676 |
| ClinGen | rs28936676 |
| ebi | rs28936676 |
| HLI | rs28936676 |
| Exac | rs28936676 |
| Gnomad | rs28936676 |
| Varsome | rs28936676 |
| LitVar | rs28936676 |
| Map | rs28936676 |
| PheGenI | rs28936676 |
| Biobank | rs28936676 |
| 1000 genomes | rs28936676 |
| hgdp | rs28936676 |
| ensembl | rs28936676 |
| geneview | rs28936676 |
| scholar | rs28936676 |
| rs28936676 | |
| pharmgkb | rs28936676 |
| gwascentral | rs28936676 |
| openSNP | rs28936676 |
| 23andMe | rs28936676 |
| SNPshot | rs28936676 |
| SNPdbe | rs28936676 |
| MSV3d | rs28936676 |
| GWAS Ctlg | rs28936676 |
| Max Magnitude | 3.5 |
| ClinVar | |
|---|---|
| Risk | Rs28936676(C;C) |
| Alt | Rs28936676(C;C) |
| Reference | Rs28936676(A;A) |
| Significance | Pathogenic |
| Disease | Variegate porphyria |
| Variation | info |
| Gene | PPOX |
| CLNDBN | Variegate porphyria, homozygous |
| Reversed | 0 |
| HGVS | NC_000001.10:g.161140257A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009235.3, |
