rs587777729
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs587777729(G;T) |
| Make rs587777729(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 9890785 |
| Gene | JAGN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587777729 |
| dbSNP (classic) | rs587777729 |
| ClinGen | rs587777729 |
| ebi | rs587777729 |
| HLI | rs587777729 |
| Exac | rs587777729 |
| Gnomad | rs587777729 |
| Varsome | rs587777729 |
| LitVar | rs587777729 |
| Map | rs587777729 |
| PheGenI | rs587777729 |
| Biobank | rs587777729 |
| 1000 genomes | rs587777729 |
| hgdp | rs587777729 |
| ensembl | rs587777729 |
| geneview | rs587777729 |
| scholar | rs587777729 |
| rs587777729 | |
| pharmgkb | rs587777729 |
| gwascentral | rs587777729 |
| openSNP | rs587777729 |
| 23andMe | rs587777729 |
| SNPshot | rs587777729 |
| SNPdbe | rs587777729 |
| MSV3d | rs587777729 |
| GWAS Ctlg | rs587777729 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs587777729(T;T) |
| Alt | rs587777729(T;T) |
| Reference | Rs587777729(G;G) |
| Significance | Pathogenic |
| Disease | Severe congenital neutropenia 6 Severe congenital neutropenia |
| Variation | info |
| Gene | JAGN1 |
| CLNDBN | Severe congenital neutropenia 6, autosomal recessive Severe congenital neutropenia |
| Reversed | 0 |
| HGVS | NC_000003.11:g.9932469G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000144164.2, RCV000170606.1, |
