rs59169454
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (GG;GG) | 0 | common in clinvar |
| (I;I) | 0 |
| Make rs59169454(A;A) |
| Make rs59169454(A;GG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 52675518 |
| Gene | KRT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs59169454 |
| dbSNP (classic) | rs59169454 |
| ClinGen | rs59169454 |
| ebi | rs59169454 |
| HLI | rs59169454 |
| Exac | rs59169454 |
| Gnomad | rs59169454 |
| Varsome | rs59169454 |
| LitVar | rs59169454 |
| Map | rs59169454 |
| PheGenI | rs59169454 |
| Biobank | rs59169454 |
| 1000 genomes | rs59169454 |
| hgdp | rs59169454 |
| ensembl | rs59169454 |
| geneview | rs59169454 |
| scholar | rs59169454 |
| rs59169454 | |
| pharmgkb | rs59169454 |
| gwascentral | rs59169454 |
| openSNP | rs59169454 |
| 23andMe | rs59169454 |
| SNPshot | rs59169454 |
| SNPdbe | rs59169454 |
| MSV3d | rs59169454 |
| GWAS Ctlg | rs59169454 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs59169454(A;A) |
| Alt | rs59169454(A;A) |
| Reference | Rs59169454(GG;GG) |
| Significance | Pathogenic |
| Disease | Ichthyosis histrix not provided |
| Variation | info |
| Gene | KRT1 |
| CLNDBN | Ichthyosis histrix, curth-macklin type not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.53069302_53069303delCCinsT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017270.23, RCV000057075.1, |
