rs111448623
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs111448623(C;C) |
| Make rs111448623(C;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 12 |
| Position | 52515795 |
| Gene | KRT5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111448623 |
| dbSNP (classic) | rs111448623 |
| ClinGen | rs111448623 |
| ebi | rs111448623 |
| HLI | rs111448623 |
| Exac | rs111448623 |
| Gnomad | rs111448623 |
| Varsome | rs111448623 |
| LitVar | rs111448623 |
| Map | rs111448623 |
| PheGenI | rs111448623 |
| Biobank | rs111448623 |
| 1000 genomes | rs111448623 |
| hgdp | rs111448623 |
| ensembl | rs111448623 |
| geneview | rs111448623 |
| scholar | rs111448623 |
| rs111448623 | |
| pharmgkb | rs111448623 |
| gwascentral | rs111448623 |
| openSNP | rs111448623 |
| 23andMe | rs111448623 |
| SNPshot | rs111448623 |
| SNPdbe | rs111448623 |
| MSV3d | rs111448623 |
| GWAS Ctlg | rs111448623 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111448623(C;C) rs111448623(G;G) |
| Alt | rs111448623(C;C) rs111448623(G;G) |
| Reference | Rs111448623(T;T) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | KRT5 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000012.11:g.52909579T>G |
| CLNSRC | |
| CLNACC | RCV000445055.1, |
