rs28933087
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | |
| (G;G) | 3 | homozygote for pachyonychia congenita Type I mutation |
| (G;T) | 3 | heterozygote for pachyonychia congenita Type I mutation |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 52492669 |
| Gene | KRT6A, LOC107984511 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28933087 |
| dbSNP (classic) | rs28933087 |
| ClinGen | rs28933087 |
| ebi | rs28933087 |
| HLI | rs28933087 |
| Exac | rs28933087 |
| Gnomad | rs28933087 |
| Varsome | rs28933087 |
| LitVar | rs28933087 |
| Map | rs28933087 |
| PheGenI | rs28933087 |
| Biobank | rs28933087 |
| 1000 genomes | rs28933087 |
| hgdp | rs28933087 |
| ensembl | rs28933087 |
| geneview | rs28933087 |
| scholar | rs28933087 |
| rs28933087 | |
| pharmgkb | rs28933087 |
| gwascentral | rs28933087 |
| openSNP | rs28933087 |
| 23andMe | rs28933087 |
| SNPshot | rs28933087 |
| SNPdbe | rs28933087 |
| MSV3d | rs28933087 |
| GWAS Ctlg | rs28933087 |
| Max Magnitude | 3 |
This SNP has been found in patients with pachyonychia congenita Type I, and the risk allele appears to be a causative mutation for this (dominant) disorder.
See also: OMIM 148041.0002
| ClinVar | |
|---|---|
| Risk | rs28933087(C;C) Rs28933087(G;G) |
| Alt | rs28933087(C;C) Rs28933087(G;G) |
| Reference | Rs28933087(T;T) |
| Significance | Pathogenic |
| Disease | PC-K6a not provided |
| Variation | info |
| Gene | KRT6A |
| CLNDBN | PC-K6a not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.52886453A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015741.27, RCV000057013.1, |
