rs199558534
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199558534(C;T) |
| Make rs199558534(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 855624 |
| Gene | ELANE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199558534 |
| dbSNP (classic) | rs199558534 |
| ClinGen | rs199558534 |
| ebi | rs199558534 |
| HLI | rs199558534 |
| Exac | rs199558534 |
| Gnomad | rs199558534 |
| Varsome | rs199558534 |
| LitVar | rs199558534 |
| Map | rs199558534 |
| PheGenI | rs199558534 |
| Biobank | rs199558534 |
| 1000 genomes | rs199558534 |
| hgdp | rs199558534 |
| ensembl | rs199558534 |
| geneview | rs199558534 |
| scholar | rs199558534 |
| rs199558534 | |
| pharmgkb | rs199558534 |
| gwascentral | rs199558534 |
| openSNP | rs199558534 |
| 23andMe | rs199558534 |
| SNPshot | rs199558534 |
| SNPdbe | rs199558534 |
| MSV3d | rs199558534 |
| GWAS Ctlg | rs199558534 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199558534(T;T) |
| Alt | rs199558534(T;T) |
| Reference | Rs199558534(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | ELANE |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.855624C>T |
| CLNSRC | |
| CLNACC | RCV000232534.1, |
