rs58058996
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs58058996(G;G) |
| Make rs58058996(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 52519815 |
| Gene | KRT5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58058996 |
| dbSNP (classic) | rs58058996 |
| ClinGen | rs58058996 |
| ebi | rs58058996 |
| HLI | rs58058996 |
| Exac | rs58058996 |
| Gnomad | rs58058996 |
| Varsome | rs58058996 |
| LitVar | rs58058996 |
| Map | rs58058996 |
| PheGenI | rs58058996 |
| Biobank | rs58058996 |
| 1000 genomes | rs58058996 |
| hgdp | rs58058996 |
| ensembl | rs58058996 |
| geneview | rs58058996 |
| scholar | rs58058996 |
| rs58058996 | |
| pharmgkb | rs58058996 |
| gwascentral | rs58058996 |
| openSNP | rs58058996 |
| 23andMe | rs58058996 |
| SNPshot | rs58058996 |
| SNPdbe | rs58058996 |
| MSV3d | rs58058996 |
| GWAS Ctlg | rs58058996 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs58058996(A;A) rs58058996(G;G) |
| Alt | rs58058996(A;A) rs58058996(G;G) |
| Reference | Rs58058996(T;T) |
| Significance | Pathogenic |
| Disease | Epidermolysis bullosa simplex not provided |
| Variation | info |
| Gene | KRT5 |
| CLNDBN | Epidermolysis bullosa simplex, Cockayne-Touraine type not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.52913599A>C; NC_000012.11:g.52913599A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015746.25, RCV000056597.3, RCV000489360.1, |
