rs768767517
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs768767517(-;C) |
| Make rs768767517(C;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 3 |
| Position | 128485998 |
| Gene | GATA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs768767517 |
| dbSNP (classic) | rs768767517 |
| ClinGen | rs768767517 |
| ebi | rs768767517 |
| HLI | rs768767517 |
| Exac | rs768767517 |
| Gnomad | rs768767517 |
| Varsome | rs768767517 |
| LitVar | rs768767517 |
| Map | rs768767517 |
| PheGenI | rs768767517 |
| Biobank | rs768767517 |
| 1000 genomes | rs768767517 |
| hgdp | rs768767517 |
| ensembl | rs768767517 |
| geneview | rs768767517 |
| scholar | rs768767517 |
| rs768767517 | |
| pharmgkb | rs768767517 |
| gwascentral | rs768767517 |
| openSNP | rs768767517 |
| 23andMe | rs768767517 |
| SNPshot | rs768767517 |
| SNPdbe | rs768767517 |
| MSV3d | rs768767517 |
| GWAS Ctlg | rs768767517 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs768767517(C;C) |
| Alt | rs768767517(C;C) |
| Reference | Rs768767517(-;-) |
| Significance | Pathogenic |
| Disease | Dendritic cell |
| Variation | info |
| Gene | GATA2 |
| CLNDBN | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency |
| Reversed | 0 |
| HGVS | NC_000003.11:g.128204842dupC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000022567.24, |
