rs2250402
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2250402(A;A) |
| Make rs2250402(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 40030351 |
| Gene | EIF2AK4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2250402 |
| dbSNP (classic) | rs2250402 |
| ClinGen | rs2250402 |
| ebi | rs2250402 |
| HLI | rs2250402 |
| Exac | rs2250402 |
| Gnomad | rs2250402 |
| Varsome | rs2250402 |
| LitVar | rs2250402 |
| Map | rs2250402 |
| PheGenI | rs2250402 |
| Biobank | rs2250402 |
| 1000 genomes | rs2250402 |
| hgdp | rs2250402 |
| ensembl | rs2250402 |
| geneview | rs2250402 |
| scholar | rs2250402 |
| rs2250402 | |
| pharmgkb | rs2250402 |
| gwascentral | rs2250402 |
| openSNP | rs2250402 |
| 23andMe | rs2250402 |
| SNPshot | rs2250402 |
| SNPdbe | rs2250402 |
| MSV3d | rs2250402 |
| GWAS Ctlg | rs2250402 |
| GMAF | 0.1065 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 22969067 ]
|
| Trait | Corneal curvature |
| Title | Genetic variants near PDGFRA are associated with corneal curvature in Australians. |
| Risk Allele | T |
| P-val | 6E-6 |
| Odds Ratio | .06 [0.033-0.085] mm increase |
| ClinVar | |
|---|---|
| Risk | rs2250402(A;A) |
| Alt | rs2250402(A;A) |
| Reference | Rs2250402(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | EIF2AK4 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000015.9:g.40322552G>T |
| CLNSRC | |
| CLNACC | RCV000427404.1, |
