rs6050307
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs6050307(G;T) |
| Make rs6050307(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 20 |
| Position | 25081706 |
| Gene | VSX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6050307 |
| dbSNP (classic) | rs6050307 |
| ClinGen | rs6050307 |
| ebi | rs6050307 |
| HLI | rs6050307 |
| Exac | rs6050307 |
| Gnomad | rs6050307 |
| Varsome | rs6050307 |
| LitVar | rs6050307 |
| Map | rs6050307 |
| PheGenI | rs6050307 |
| Biobank | rs6050307 |
| 1000 genomes | rs6050307 |
| hgdp | rs6050307 |
| ensembl | rs6050307 |
| geneview | rs6050307 |
| scholar | rs6050307 |
| rs6050307 | |
| pharmgkb | rs6050307 |
| gwascentral | rs6050307 |
| openSNP | rs6050307 |
| 23andMe | rs6050307 |
| SNPshot | rs6050307 |
| SNPdbe | rs6050307 |
| MSV3d | rs6050307 |
| GWAS Ctlg | rs6050307 |
| Max Magnitude | 0 |
[PMID 25675348] Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population
| ClinVar | |
|---|---|
| Risk | rs6050307(T;T) |
| Alt | rs6050307(T;T) |
| Reference | Rs6050307(G;G) |
| Significance | Non-pathogenic |
| Disease | Posterior Polymorphous Corneal Dystrophy |
| Variation | info |
| Gene | VSX1 |
| CLNDBN | Posterior Polymorphous Corneal Dystrophy |
| Reversed | 0 |
| HGVS | NC_000020.10:g.25062342G>T |
| CLNSRC | |
| CLNACC | RCV000260491.1, |
