rs6678616
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs6678616(C;T) |
| Make rs6678616(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 16148628 |
| Gene | EPHA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6678616 |
| dbSNP (classic) | rs6678616 |
| ClinGen | rs6678616 |
| ebi | rs6678616 |
| HLI | rs6678616 |
| Exac | rs6678616 |
| Gnomad | rs6678616 |
| Varsome | rs6678616 |
| LitVar | rs6678616 |
| Map | rs6678616 |
| PheGenI | rs6678616 |
| Biobank | rs6678616 |
| 1000 genomes | rs6678616 |
| hgdp | rs6678616 |
| ensembl | rs6678616 |
| geneview | rs6678616 |
| scholar | rs6678616 |
| rs6678616 | |
| pharmgkb | rs6678616 |
| gwascentral | rs6678616 |
| openSNP | rs6678616 |
| 23andMe | rs6678616 |
| SNPshot | rs6678616 |
| SNPdbe | rs6678616 |
| MSV3d | rs6678616 |
| GWAS Ctlg | rs6678616 |
| GMAF | 0.2296 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19649315
] EPHA2 is associated with age-related cortical cataract in mice and humans
| ClinVar | |
|---|---|
| Risk | rs6678616(T;T) |
| Alt | rs6678616(T;T) |
| Reference | Rs6678616(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Age-related cortical cataract |
| Variation | info |
| Gene | EPHA2 |
| CLNDBN | not specified Age-related cortical cataract |
| Reversed | 0 |
| HGVS | NC_000001.10:g.16475123C>T |
| CLNSRC | |
| CLNACC | RCV000253199.1, RCV000309096.1, |
