rs57424749
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3 | homozygote for pachyonychia congenita Type I mutation |
| (C;G) | 3 | heterozygote for pachyonychia congenita Type I mutation |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 41612309 |
| Gene | KRT16 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs57424749 |
| dbSNP (classic) | rs57424749 |
| ClinGen | rs57424749 |
| ebi | rs57424749 |
| HLI | rs57424749 |
| Exac | rs57424749 |
| Gnomad | rs57424749 |
| Varsome | rs57424749 |
| LitVar | rs57424749 |
| Map | rs57424749 |
| PheGenI | rs57424749 |
| Biobank | rs57424749 |
| 1000 genomes | rs57424749 |
| hgdp | rs57424749 |
| ensembl | rs57424749 |
| geneview | rs57424749 |
| scholar | rs57424749 |
| rs57424749 | |
| pharmgkb | rs57424749 |
| gwascentral | rs57424749 |
| openSNP | rs57424749 |
| 23andMe | rs57424749 |
| SNPshot | rs57424749 |
| SNPdbe | rs57424749 |
| MSV3d | rs57424749 |
| GWAS Ctlg | rs57424749 |
| 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 148067.0005
| ClinVar | |
|---|---|
| Risk | rs57424749(A;A) Rs57424749(C;C) |
| Alt | rs57424749(A;A) Rs57424749(C;C) |
| Reference | Rs57424749(G;G) |
| Significance | Pathogenic |
| Disease | Pachyonychia congenita not provided |
| Variation | info |
| Gene | KRT16 |
| CLNDBN | Pachyonychia congenita, type 1 not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.39768561C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015708.23, RCV000057039.1, |
