rs185919705
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 4 | Corneal dystrophy, fuchs endothelial, 8 |
| Make rs185919705(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 86674435 |
| Gene | AGBL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs185919705 |
| dbSNP (classic) | rs185919705 |
| ClinGen | rs185919705 |
| ebi | rs185919705 |
| HLI | rs185919705 |
| Exac | rs185919705 |
| Gnomad | rs185919705 |
| Varsome | rs185919705 |
| LitVar | rs185919705 |
| Map | rs185919705 |
| PheGenI | rs185919705 |
| Biobank | rs185919705 |
| 1000 genomes | rs185919705 |
| hgdp | rs185919705 |
| ensembl | rs185919705 |
| geneview | rs185919705 |
| scholar | rs185919705 |
| rs185919705 | |
| pharmgkb | rs185919705 |
| gwascentral | rs185919705 |
| openSNP | rs185919705 |
| 23andMe | rs185919705 |
| SNPshot | rs185919705 |
| SNPdbe | rs185919705 |
| MSV3d | rs185919705 |
| GWAS Ctlg | rs185919705 |
| Max Magnitude | 4 |
| ClinVar | |
|---|---|
| Risk | rs185919705(T;T) |
| Alt | rs185919705(T;T) |
| Reference | Rs185919705(C;C) |
| Significance | Pathogenic |
| Disease | Corneal dystrophy |
| Variation | info |
| Gene | AGBL1 |
| CLNDBN | Corneal dystrophy, Fuchs endothelial, 8 |
| Reversed | 0 |
| HGVS | NC_000015.9:g.87217666C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000074408.2, |
