rs58075662
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs58075662(A;A) |
| Make rs58075662(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 40822119 |
| Gene | KRT10, TMEM99 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58075662 |
| dbSNP (classic) | rs58075662 |
| ClinGen | rs58075662 |
| ebi | rs58075662 |
| HLI | rs58075662 |
| Exac | rs58075662 |
| Gnomad | rs58075662 |
| Varsome | rs58075662 |
| LitVar | rs58075662 |
| Map | rs58075662 |
| PheGenI | rs58075662 |
| Biobank | rs58075662 |
| 1000 genomes | rs58075662 |
| hgdp | rs58075662 |
| ensembl | rs58075662 |
| geneview | rs58075662 |
| scholar | rs58075662 |
| rs58075662 | |
| pharmgkb | rs58075662 |
| gwascentral | rs58075662 |
| openSNP | rs58075662 |
| 23andMe | rs58075662 |
| SNPshot | rs58075662 |
| SNPdbe | rs58075662 |
| MSV3d | rs58075662 |
| GWAS Ctlg | rs58075662 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs58075662(A;A) rs58075662(C;C) rs58075662(T;T) |
| Alt | rs58075662(A;A) rs58075662(C;C) rs58075662(T;T) |
| Reference | Rs58075662(G;G) |
| Significance | Pathogenic |
| Disease | not provided Bullous ichthyosiform erythroderma |
| Variation | info |
| Gene | KRT10 TMEM99 |
| CLNDBN | not provided Bullous ichthyosiform erythroderma |
| Reversed | 1 |
| HGVS | NC_000017.10:g.38978371C>A; NC_000017.10:g.38978371C>G; NC_000017.10:g.38978371C>T |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000056499.1, RCV000056498.1, RCV000015674.25, RCV000056497.2, |
