rs777966677
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs777966677(A;A) |
| Make rs777966677(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 9890781 |
| Gene | JAGN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs777966677 |
| dbSNP (classic) | rs777966677 |
| ClinGen | rs777966677 |
| ebi | rs777966677 |
| HLI | rs777966677 |
| Exac | rs777966677 |
| Gnomad | rs777966677 |
| Varsome | rs777966677 |
| LitVar | rs777966677 |
| Map | rs777966677 |
| PheGenI | rs777966677 |
| Biobank | rs777966677 |
| 1000 genomes | rs777966677 |
| hgdp | rs777966677 |
| ensembl | rs777966677 |
| geneview | rs777966677 |
| scholar | rs777966677 |
| rs777966677 | |
| pharmgkb | rs777966677 |
| gwascentral | rs777966677 |
| openSNP | rs777966677 |
| 23andMe | rs777966677 |
| SNPshot | rs777966677 |
| SNPdbe | rs777966677 |
| MSV3d | rs777966677 |
| GWAS Ctlg | rs777966677 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs777966677(A;A) |
| Alt | rs777966677(A;A) |
| Reference | Rs777966677(G;G) |
| Significance | Pathogenic |
| Disease | Severe congenital neutropenia |
| Variation | info |
| Gene | JAGN1 |
| CLNDBN | Severe congenital neutropenia |
| Reversed | 0 |
| HGVS | NC_000003.11:g.9932465G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000170601.1, |
