rs59349773
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;C) | 3 | heterozygote for pachyonychia congenita Type I mutation |
| (C;C) | 3 | homozygote for pachyonychia congenita Type I mutation |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 41612324 |
| Gene | KRT16 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs59349773 |
| dbSNP (classic) | rs59349773 |
| ClinGen | rs59349773 |
| ebi | rs59349773 |
| HLI | rs59349773 |
| Exac | rs59349773 |
| Gnomad | rs59349773 |
| Varsome | rs59349773 |
| LitVar | rs59349773 |
| Map | rs59349773 |
| PheGenI | rs59349773 |
| Biobank | rs59349773 |
| 1000 genomes | rs59349773 |
| hgdp | rs59349773 |
| ensembl | rs59349773 |
| geneview | rs59349773 |
| scholar | rs59349773 |
| rs59349773 | |
| pharmgkb | rs59349773 |
| gwascentral | rs59349773 |
| openSNP | rs59349773 |
| 23andMe | rs59349773 |
| SNPshot | rs59349773 |
| SNPdbe | rs59349773 |
| MSV3d | rs59349773 |
| GWAS Ctlg | rs59349773 |
| 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 148067.0006
| ClinVar | |
|---|---|
| Risk | Rs59349773(C;C) rs59349773(G;G) |
| Alt | Rs59349773(C;C) rs59349773(G;G) |
| Reference | Rs59349773(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.39768576T>C; NC_000017.10:g.39768576T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000198279.1, RCV000015709.27, RCV000057031.1, |
