rs57348201
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs57348201(A;T) |
| Make rs57348201(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 52516662 |
| Gene | KRT5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs57348201 |
| dbSNP (classic) | rs57348201 |
| ClinGen | rs57348201 |
| ebi | rs57348201 |
| HLI | rs57348201 |
| Exac | rs57348201 |
| Gnomad | rs57348201 |
| Varsome | rs57348201 |
| LitVar | rs57348201 |
| Map | rs57348201 |
| PheGenI | rs57348201 |
| Biobank | rs57348201 |
| 1000 genomes | rs57348201 |
| hgdp | rs57348201 |
| ensembl | rs57348201 |
| geneview | rs57348201 |
| scholar | rs57348201 |
| rs57348201 | |
| pharmgkb | rs57348201 |
| gwascentral | rs57348201 |
| openSNP | rs57348201 |
| 23andMe | rs57348201 |
| SNPshot | rs57348201 |
| SNPdbe | rs57348201 |
| MSV3d | rs57348201 |
| GWAS Ctlg | rs57348201 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs57348201(C;C) rs57348201(T;T) |
| Alt | rs57348201(C;C) rs57348201(T;T) |
| Reference | Rs57348201(A;A) |
| Significance | Pathogenic |
| Disease | Epidermolysis bullosa simplex not provided |
| Variation | info |
| Gene | KRT5 |
| CLNDBN | Epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.52910446T>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015760.25, RCV000056560.1, |
