rs59328451
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;T) | 3 | heterozygote for pachyonychia congenita Type I mutation |
| (T;T) | 3 | homozygote for pachyonychia congenita Type I mutation |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 41610549 |
| Gene | KRT16 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs59328451 |
| dbSNP (classic) | rs59328451 |
| ClinGen | rs59328451 |
| ebi | rs59328451 |
| HLI | rs59328451 |
| Exac | rs59328451 |
| Gnomad | rs59328451 |
| Varsome | rs59328451 |
| LitVar | rs59328451 |
| Map | rs59328451 |
| PheGenI | rs59328451 |
| Biobank | rs59328451 |
| 1000 genomes | rs59328451 |
| hgdp | rs59328451 |
| ensembl | rs59328451 |
| geneview | rs59328451 |
| scholar | rs59328451 |
| rs59328451 | |
| pharmgkb | rs59328451 |
| gwascentral | rs59328451 |
| openSNP | rs59328451 |
| 23andMe | rs59328451 |
| SNPshot | rs59328451 |
| SNPdbe | rs59328451 |
| MSV3d | rs59328451 |
| GWAS Ctlg | rs59328451 |
| GMAF | 0.0004591 |
| 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 148067.0008
| ClinVar | |
|---|---|
| Risk | Rs59328451(T;T) |
| Alt | Rs59328451(T;T) |
| Reference | Rs59328451(A;A) |
| 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.39766801T>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015711.27, RCV000057025.1, |
