rs376003468
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common genotype |
| (G;G) | 0 | common in clinvar |
| Make rs376003468(G;T) |
| Make rs376003468(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 3 |
| Position | 128481849 |
| Gene | GATA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs376003468 |
| dbSNP (classic) | rs376003468 |
| ClinGen | rs376003468 |
| ebi | rs376003468 |
| HLI | rs376003468 |
| Exac | rs376003468 |
| Gnomad | rs376003468 |
| Varsome | rs376003468 |
| LitVar | rs376003468 |
| Map | rs376003468 |
| PheGenI | rs376003468 |
| Biobank | rs376003468 |
| 1000 genomes | rs376003468 |
| hgdp | rs376003468 |
| ensembl | rs376003468 |
| geneview | rs376003468 |
| scholar | rs376003468 |
| rs376003468 | |
| pharmgkb | rs376003468 |
| gwascentral | rs376003468 |
| openSNP | rs376003468 |
| 23andMe | rs376003468 |
| SNPshot | rs376003468 |
| SNPdbe | rs376003468 |
| MSV3d | rs376003468 |
| GWAS Ctlg | rs376003468 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | Rs376003468(A;A) rs376003468(T;T) |
| Alt | Rs376003468(A;A) rs376003468(T;T) |
| Reference | Rs376003468(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Dendritic cell Lymphedema |
| Variation | info |
| Gene | GATA2 |
| CLNDBN | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Lymphedema, primary, with myelodysplasia |
| Reversed | 0 |
| HGVS | NC_000003.11:g.128200692G>T |
| CLNSRC | |
| CLNACC | RCV000197751.1, |
