rs80194531
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;C) | 4 | Corneal dystrophy, fuchs endothelial, 6 |
| Make rs80194531(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 31461211 |
| Gene | ZEB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80194531 |
| dbSNP (classic) | rs80194531 |
| ClinGen | rs80194531 |
| ebi | rs80194531 |
| HLI | rs80194531 |
| Exac | rs80194531 |
| Gnomad | rs80194531 |
| Varsome | rs80194531 |
| LitVar | rs80194531 |
| Map | rs80194531 |
| PheGenI | rs80194531 |
| Biobank | rs80194531 |
| 1000 genomes | rs80194531 |
| hgdp | rs80194531 |
| ensembl | rs80194531 |
| geneview | rs80194531 |
| scholar | rs80194531 |
| rs80194531 | |
| pharmgkb | rs80194531 |
| gwascentral | rs80194531 |
| openSNP | rs80194531 |
| 23andMe | rs80194531 |
| SNPshot | rs80194531 |
| SNPdbe | rs80194531 |
| MSV3d | rs80194531 |
| GWAS Ctlg | rs80194531 |
| GMAF | 0.0124 |
| Max Magnitude | 4 |
| ClinVar | |
|---|---|
| Risk | rs80194531(C;C) |
| Alt | rs80194531(C;C) |
| Reference | Rs80194531(A;A) |
| Significance | Pathogenic |
| Disease | Corneal dystrophy |
| Variation | info |
| Gene | ZEB1 |
| CLNDBN | Corneal dystrophy, Fuchs endothelial, 6 |
| Reversed | 0 |
| HGVS | NC_000010.10:g.31750140A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013468.16, |
