rs59075499
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CG;CG) | 0 | common in clinvar |
| Make rs59075499(CG;GA) |
| Make rs59075499(GA;GA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 40819625 |
| Gene | KRT10, TMEM99 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs59075499 |
| dbSNP (classic) | rs59075499 |
| ClinGen | rs59075499 |
| ebi | rs59075499 |
| HLI | rs59075499 |
| Exac | rs59075499 |
| Gnomad | rs59075499 |
| Varsome | rs59075499 |
| LitVar | rs59075499 |
| Map | rs59075499 |
| PheGenI | rs59075499 |
| Biobank | rs59075499 |
| 1000 genomes | rs59075499 |
| hgdp | rs59075499 |
| ensembl | rs59075499 |
| geneview | rs59075499 |
| scholar | rs59075499 |
| rs59075499 | |
| pharmgkb | rs59075499 |
| gwascentral | rs59075499 |
| openSNP | rs59075499 |
| 23andMe | rs59075499 |
| SNPshot | rs59075499 |
| SNPdbe | rs59075499 |
| MSV3d | rs59075499 |
| GWAS Ctlg | rs59075499 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs59075499(GA;GA) |
| Alt | rs59075499(GA;GA) |
| Reference | Rs59075499(CG;CG) |
| Significance | Pathogenic |
| Disease | Ichthyosis not provided |
| Variation | info |
| Gene | KRT10 TMEM99 |
| CLNDBN | Ichthyosis, cyclic, with epidermolytic hyperkeratosis not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.38975877_38975878delCGinsTC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015681.21, RCV000056474.1, |
