rs58762773
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs58762773(A;A) |
| Make rs58762773(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 41583245 |
| Gene | KRT14 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58762773 |
| dbSNP (classic) | rs58762773 |
| ClinGen | rs58762773 |
| ebi | rs58762773 |
| HLI | rs58762773 |
| Exac | rs58762773 |
| Gnomad | rs58762773 |
| Varsome | rs58762773 |
| LitVar | rs58762773 |
| Map | rs58762773 |
| PheGenI | rs58762773 |
| Biobank | rs58762773 |
| 1000 genomes | rs58762773 |
| hgdp | rs58762773 |
| ensembl | rs58762773 |
| geneview | rs58762773 |
| scholar | rs58762773 |
| rs58762773 | |
| pharmgkb | rs58762773 |
| gwascentral | rs58762773 |
| openSNP | rs58762773 |
| 23andMe | rs58762773 |
| SNPshot | rs58762773 |
| SNPdbe | rs58762773 |
| MSV3d | rs58762773 |
| GWAS Ctlg | rs58762773 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs58762773(A;A) |
| Alt | rs58762773(A;A) |
| Reference | Rs58762773(G;G) |
| Significance | Pathogenic |
| Disease | Epidermolysis bullosa herpetiformis not provided |
| Variation | info |
| Gene | KRT14 |
| CLNDBN | Epidermolysis bullosa herpetiformis, Dowling-Meara not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.39739497C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015728.26, RCV000056692.1, |
