rs1547014
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs1547014(C;C) |
| Make rs1547014(C;T) |
| Make rs1547014(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 28704723 |
| Gene | CHEK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1547014 |
| dbSNP (classic) | rs1547014 |
| ClinGen | rs1547014 |
| ebi | rs1547014 |
| HLI | rs1547014 |
| Exac | rs1547014 |
| Gnomad | rs1547014 |
| Varsome | rs1547014 |
| LitVar | rs1547014 |
| Map | rs1547014 |
| PheGenI | rs1547014 |
| Biobank | rs1547014 |
| 1000 genomes | rs1547014 |
| hgdp | rs1547014 |
| ensembl | rs1547014 |
| geneview | rs1547014 |
| scholar | rs1547014 |
| rs1547014 | |
| pharmgkb | rs1547014 |
| gwascentral | rs1547014 |
| openSNP | rs1547014 |
| 23andMe | rs1547014 |
| SNPshot | rs1547014 |
| SNPdbe | rs1547014 |
| MSV3d | rs1547014 |
| GWAS Ctlg | rs1547014 |
| GMAF | 0.3205 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 20548946 ]
|
| Trait | Vertical cup-disc ratio |
| Title | A genome-wide association study of optic disc parameters |
| Risk Allele | T |
| P-val | 1E-8 |
| Odds Ratio | 0.01 [0.007-0.015] mm2 decrease |
[PMID 22584021] Association between Genetic Variants Associated with Vertical Cup-to-Disc Ratio and Phenotypic Features of Primary Open-Angle Glaucoma
