rs28939716
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 2 | |
| (G;G) | 3 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 41747357 |
| Gene | LOC105374425, PHOX2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28939716 |
| dbSNP (classic) | rs28939716 |
| ClinGen | rs28939716 |
| ebi | rs28939716 |
| HLI | rs28939716 |
| Exac | rs28939716 |
| Gnomad | rs28939716 |
| Varsome | rs28939716 |
| LitVar | rs28939716 |
| Map | rs28939716 |
| PheGenI | rs28939716 |
| Biobank | rs28939716 |
| 1000 genomes | rs28939716 |
| hgdp | rs28939716 |
| ensembl | rs28939716 |
| geneview | rs28939716 |
| scholar | rs28939716 |
| rs28939716 | |
| pharmgkb | rs28939716 |
| gwascentral | rs28939716 |
| openSNP | rs28939716 |
| 23andMe | rs28939716 |
| SNPshot | rs28939716 |
| SNPdbe | rs28939716 |
| MSV3d | rs28939716 |
| GWAS Ctlg | rs28939716 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | Rs28939716(G;G) |
| Alt | Rs28939716(G;G) |
| Reference | Rs28939716(C;C) |
| Significance | Pathogenic |
| Disease | Hirschsprung disease ganglioneuroblastoma |
| Variation | info |
| Gene | PHOX2B |
| CLNDBN | Hirschsprung disease ganglioneuroblastoma |
| Reversed | 1 |
| HGVS | NC_000004.11:g.41749374G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006383.2, |
