rs137854446
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs137854446(G;T) |
| Make rs137854446(T;T) |
| Reference | GRCh37.p5 37.3/135 |
| Chromosome | 19 |
| Position | 855978 |
| Gene | ELANE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854446 |
| dbSNP (classic) | rs137854446 |
| ClinGen | rs137854446 |
| ebi | rs137854446 |
| HLI | rs137854446 |
| Exac | rs137854446 |
| Gnomad | rs137854446 |
| Varsome | rs137854446 |
| LitVar | rs137854446 |
| Map | rs137854446 |
| PheGenI | rs137854446 |
| Biobank | rs137854446 |
| 1000 genomes | rs137854446 |
| hgdp | rs137854446 |
| ensembl | rs137854446 |
| geneview | rs137854446 |
| scholar | rs137854446 |
| rs137854446 | |
| pharmgkb | rs137854446 |
| gwascentral | rs137854446 |
| openSNP | rs137854446 |
| 23andMe | rs137854446 |
| SNPshot | rs137854446 |
| SNPdbe | rs137854446 |
| MSV3d | rs137854446 |
| GWAS Ctlg | rs137854446 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137854446(T;T) |
| Alt | rs137854446(T;T) |
| Reference | Rs137854446(G;G) |
| Significance | Pathogenic |
| Disease | Cyclical neutropenia |
| Variation | info |
| Gene | ELANE |
| CLNDBN | Cyclical neutropenia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.855978G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018223.27, |
