rs58751565
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs58751565(A;A) |
| Make rs58751565(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 52520283 |
| Gene | KRT5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58751565 |
| dbSNP (classic) | rs58751565 |
| ClinGen | rs58751565 |
| ebi | rs58751565 |
| HLI | rs58751565 |
| Exac | rs58751565 |
| Gnomad | rs58751565 |
| Varsome | rs58751565 |
| LitVar | rs58751565 |
| Map | rs58751565 |
| PheGenI | rs58751565 |
| Biobank | rs58751565 |
| 1000 genomes | rs58751565 |
| hgdp | rs58751565 |
| ensembl | rs58751565 |
| geneview | rs58751565 |
| scholar | rs58751565 |
| rs58751565 | |
| pharmgkb | rs58751565 |
| gwascentral | rs58751565 |
| openSNP | rs58751565 |
| 23andMe | rs58751565 |
| SNPshot | rs58751565 |
| SNPdbe | rs58751565 |
| MSV3d | rs58751565 |
| GWAS Ctlg | rs58751565 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs58751565(A;A) rs58751565(T;T) |
| Alt | rs58751565(A;A) rs58751565(T;T) |
| Reference | Rs58751565(C;C) |
| Significance | Pathogenic |
| Disease | Dowling-Degos disease 1 not provided |
| Variation | info |
| Gene | KRT5 |
| CLNDBN | Dowling-Degos disease 1 not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.52914067G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015753.23, RCV000056572.1, |
