rs60586163
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs60586163(C;G) |
| Make rs60586163(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 52519137 |
| Gene | KRT5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs60586163 |
| dbSNP (classic) | rs60586163 |
| ClinGen | rs60586163 |
| ebi | rs60586163 |
| HLI | rs60586163 |
| Exac | rs60586163 |
| Gnomad | rs60586163 |
| Varsome | rs60586163 |
| LitVar | rs60586163 |
| Map | rs60586163 |
| PheGenI | rs60586163 |
| Biobank | rs60586163 |
| 1000 genomes | rs60586163 |
| hgdp | rs60586163 |
| ensembl | rs60586163 |
| geneview | rs60586163 |
| scholar | rs60586163 |
| rs60586163 | |
| pharmgkb | rs60586163 |
| gwascentral | rs60586163 |
| openSNP | rs60586163 |
| 23andMe | rs60586163 |
| SNPshot | rs60586163 |
| SNPdbe | rs60586163 |
| MSV3d | rs60586163 |
| GWAS Ctlg | rs60586163 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs60586163(A;A) rs60586163(G;G) rs60586163(T;T) |
| Alt | rs60586163(A;A) rs60586163(G;G) rs60586163(T;T) |
| Reference | Rs60586163(C;C) |
| Significance | Pathogenic |
| Disease | not provided Epidermolysis bullosa simplex |
| Variation | info |
| Gene | KRT5 |
| CLNDBN | not provided Epidermolysis bullosa simplex, Cockayne-Touraine type |
| Reversed | 1 |
| HGVS | NC_000012.11:g.52912921G>A; NC_000012.11:g.52912921G>C; NC_000012.11:g.52912921G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000056633.1, RCV000015750.25, RCV000056632.1, RCV000056631.1, |
