rs59429455
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs59429455(A;A) |
| Make rs59429455(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 52679785 |
| Gene | KRT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs59429455 |
| dbSNP (classic) | rs59429455 |
| ClinGen | rs59429455 |
| ebi | rs59429455 |
| HLI | rs59429455 |
| Exac | rs59429455 |
| Gnomad | rs59429455 |
| Varsome | rs59429455 |
| LitVar | rs59429455 |
| Map | rs59429455 |
| PheGenI | rs59429455 |
| Biobank | rs59429455 |
| 1000 genomes | rs59429455 |
| hgdp | rs59429455 |
| ensembl | rs59429455 |
| geneview | rs59429455 |
| scholar | rs59429455 |
| rs59429455 | |
| pharmgkb | rs59429455 |
| gwascentral | rs59429455 |
| openSNP | rs59429455 |
| 23andMe | rs59429455 |
| SNPshot | rs59429455 |
| SNPdbe | rs59429455 |
| MSV3d | rs59429455 |
| GWAS Ctlg | rs59429455 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs59429455(A;A) |
| Alt | rs59429455(A;A) |
| Reference | Rs59429455(C;C) |
| Significance | Pathogenic |
| Disease | Bullous ichthyosiform erythroderma not provided |
| Variation | info |
| Gene | KRT1 |
| CLNDBN | Bullous ichthyosiform erythroderma not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.53073569G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017265.27, RCV000057092.1, |
