rs2335052
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2335052(A;A) |
| Make rs2335052(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 128486108 |
| Gene | GATA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2335052 |
| dbSNP (classic) | rs2335052 |
| ClinGen | rs2335052 |
| ebi | rs2335052 |
| HLI | rs2335052 |
| Exac | rs2335052 |
| Gnomad | rs2335052 |
| Varsome | rs2335052 |
| LitVar | rs2335052 |
| Map | rs2335052 |
| PheGenI | rs2335052 |
| Biobank | rs2335052 |
| 1000 genomes | rs2335052 |
| hgdp | rs2335052 |
| ensembl | rs2335052 |
| geneview | rs2335052 |
| scholar | rs2335052 |
| rs2335052 | |
| pharmgkb | rs2335052 |
| gwascentral | rs2335052 |
| openSNP | rs2335052 |
| 23andMe | rs2335052 |
| SNPshot | rs2335052 |
| SNPdbe | rs2335052 |
| MSV3d | rs2335052 |
| GWAS Ctlg | rs2335052 |
| GMAF | 0.2424 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19706030
] Validation Study of Genetic Associations with Coronary Artery Disease on Chromosome 3q13-21 and Potential Effect Modification by Smoking
[PMID 19864173] Association study of GATA-2 transcription factor gene (GATA2) polymorphism and Parkinson's disease
[PMID 16934006] GATA2 is associated with familial early-onset coronary artery disease.
| ClinVar | |
|---|---|
| Risk | rs2335052(A;A) |
| Alt | rs2335052(A;A) |
| Reference | Rs2335052(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Lymphedema |
| Variation | info |
| Gene | GATA2 |
| CLNDBN | not specified Lymphedema, primary, with myelodysplasia |
| Reversed | 1 |
| HGVS | NC_000003.11:g.128204951C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000121149.2, RCV000332089.1, |
[PMID 26287967] GATA2 rs2335052 Polymorphism Predicts the Survival of Patients with Colorectal Cancer
