rs201117839
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs201117839(A;A) |
| Make rs201117839(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 855957 |
| Gene | ELANE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201117839 |
| dbSNP (classic) | rs201117839 |
| ClinGen | rs201117839 |
| ebi | rs201117839 |
| HLI | rs201117839 |
| Exac | rs201117839 |
| Gnomad | rs201117839 |
| Varsome | rs201117839 |
| LitVar | rs201117839 |
| Map | rs201117839 |
| PheGenI | rs201117839 |
| Biobank | rs201117839 |
| 1000 genomes | rs201117839 |
| hgdp | rs201117839 |
| ensembl | rs201117839 |
| geneview | rs201117839 |
| scholar | rs201117839 |
| rs201117839 | |
| pharmgkb | rs201117839 |
| gwascentral | rs201117839 |
| openSNP | rs201117839 |
| 23andMe | rs201117839 |
| SNPshot | rs201117839 |
| SNPdbe | rs201117839 |
| MSV3d | rs201117839 |
| GWAS Ctlg | rs201117839 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201117839(A;A) |
| Alt | rs201117839(A;A) |
| Reference | Rs201117839(G;G) |
| Significance | Pathogenic |
| Disease | Cyclical neutropenia |
| Variation | info |
| Gene | ELANE |
| CLNDBN | Cyclical neutropenia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.855957G>A |
| CLNSRC | |
| CLNACC | RCV000215566.1, |
