rs3754334
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs3754334(C;T) |
| Make rs3754334(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 16125272 |
| Gene | EPHA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3754334 |
| dbSNP (classic) | rs3754334 |
| ClinGen | rs3754334 |
| ebi | rs3754334 |
| HLI | rs3754334 |
| Exac | rs3754334 |
| Gnomad | rs3754334 |
| Varsome | rs3754334 |
| LitVar | rs3754334 |
| Map | rs3754334 |
| PheGenI | rs3754334 |
| Biobank | rs3754334 |
| 1000 genomes | rs3754334 |
| hgdp | rs3754334 |
| ensembl | rs3754334 |
| geneview | rs3754334 |
| scholar | rs3754334 |
| rs3754334 | |
| pharmgkb | rs3754334 |
| gwascentral | rs3754334 |
| openSNP | rs3754334 |
| 23andMe | rs3754334 |
| SNPshot | rs3754334 |
| SNPdbe | rs3754334 |
| MSV3d | rs3754334 |
| GWAS Ctlg | rs3754334 |
| GMAF | 0.2296 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 22412971
] EPHA2 Polymorphisms and Age-Related Cataract in India
[PMID 19005574] The EPHA2 gene is associated with cataracts linked to chromosome 1p.
[PMID 19649315] EPHA2 is associated with age-related cortical cataract in mice and humans.
[PMID 20361013] Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.
| ClinVar | |
|---|---|
| Risk | rs3754334(T;T) |
| Alt | rs3754334(T;T) |
| Reference | Rs3754334(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Age-related cortical cataract |
| Variation | info |
| Gene | EPHA2 |
| CLNDBN | not specified Age-related cortical cataract |
| Reversed | 1 |
| HGVS | NC_000001.10:g.16451767G>A |
| CLNSRC | |
| CLNACC | RCV000244865.1, RCV000304354.1, |
