rs74315433
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 4 | keratoconus |
| (G;G) | 0 | common in clinvar |
| Make rs74315433(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 25079460 |
| Gene | VSX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315433 |
| dbSNP (classic) | rs74315433 |
| ClinGen | rs74315433 |
| ebi | rs74315433 |
| HLI | rs74315433 |
| Exac | rs74315433 |
| Gnomad | rs74315433 |
| Varsome | rs74315433 |
| LitVar | rs74315433 |
| Map | rs74315433 |
| PheGenI | rs74315433 |
| Biobank | rs74315433 |
| 1000 genomes | rs74315433 |
| hgdp | rs74315433 |
| ensembl | rs74315433 |
| geneview | rs74315433 |
| scholar | rs74315433 |
| rs74315433 | |
| pharmgkb | rs74315433 |
| gwascentral | rs74315433 |
| openSNP | rs74315433 |
| 23andMe | rs74315433 |
| SNPshot | rs74315433 |
| SNPdbe | rs74315433 |
| MSV3d | rs74315433 |
| GWAS Ctlg | rs74315433 |
| GMAF | 0.005051 |
| Max Magnitude | 4 |
| ClinVar | |
|---|---|
| Risk | rs74315433(A;A) rs74315433(T;T) |
| Alt | rs74315433(A;A) rs74315433(T;T) |
| Reference | Rs74315433(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Posterior Polymorphous Corneal Dystrophy Posterior polymorphous corneal dystrophy 1 not specified |
| Variation | info |
| Gene | VSX1 |
| CLNDBN | Posterior Polymorphous Corneal Dystrophy Posterior polymorphous corneal dystrophy 1 not specified |
| Reversed | 1 |
| HGVS | NC_000020.10:g.25060096C>A; NC_000020.10:g.25060096C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000304040.1, RCV000005560.5, RCV000358879.1, RCV000454465.1, |
