rs57052654
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (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 | 52488346 |
| Gene | KRT6A, LOC107984511 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs57052654 |
| dbSNP (classic) | rs57052654 |
| ClinGen | rs57052654 |
| ebi | rs57052654 |
| HLI | rs57052654 |
| Exac | rs57052654 |
| Gnomad | rs57052654 |
| Varsome | rs57052654 |
| LitVar | rs57052654 |
| Map | rs57052654 |
| PheGenI | rs57052654 |
| Biobank | rs57052654 |
| 1000 genomes | rs57052654 |
| hgdp | rs57052654 |
| ensembl | rs57052654 |
| geneview | rs57052654 |
| scholar | rs57052654 |
| rs57052654 | |
| pharmgkb | rs57052654 |
| gwascentral | rs57052654 |
| openSNP | rs57052654 |
| 23andMe | rs57052654 |
| SNPshot | rs57052654 |
| SNPdbe | rs57052654 |
| MSV3d | rs57052654 |
| GWAS Ctlg | rs57052654 |
| 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 148041.0004
| ClinVar | |
|---|---|
| Risk | rs57052654(C;C) Rs57052654(G;G) |
| Alt | rs57052654(C;C) Rs57052654(G;G) |
| Reference | Rs57052654(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.52882130A>C; NC_000012.11:g.52882130A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015743.23, RCV000056997.1, RCV000056996.1, RCV000144075.2, |
