rs28928894
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | |
| (C;C) | 3 | homozygote for pachyonychia congenita Type I mutation |
| (C;T) | 3 | heterozygote for pachyonychia congenita Type I mutation |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 41612327 |
| Gene | KRT16 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28928894 |
| dbSNP (classic) | rs28928894 |
| ClinGen | rs28928894 |
| ebi | rs28928894 |
| HLI | rs28928894 |
| Exac | rs28928894 |
| Gnomad | rs28928894 |
| Varsome | rs28928894 |
| LitVar | rs28928894 |
| Map | rs28928894 |
| PheGenI | rs28928894 |
| Biobank | rs28928894 |
| 1000 genomes | rs28928894 |
| hgdp | rs28928894 |
| ensembl | rs28928894 |
| geneview | rs28928894 |
| scholar | rs28928894 |
| rs28928894 | |
| pharmgkb | rs28928894 |
| gwascentral | rs28928894 |
| openSNP | rs28928894 |
| 23andMe | rs28928894 |
| SNPshot | rs28928894 |
| SNPdbe | rs28928894 |
| MSV3d | rs28928894 |
| GWAS Ctlg | rs28928894 |
| 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 148067.0009
| ClinVar | |
|---|---|
| Risk | Rs28928894(A;A) Rs28928894(C;C) rs28928894(G;G) |
| Alt | Rs28928894(A;A) Rs28928894(C;C) rs28928894(G;G) |
| Reference | Rs28928894(T;T) |
| Significance | Pathogenic |
| Disease | not provided Pachyonychia congenita |
| Variation | info |
| Gene | KRT16 |
| CLNDBN | not provided Pachyonychia congenita, type 1 |
| Reversed | 1 |
| HGVS | NC_000017.10:g.39768579A>C; NC_000017.10:g.39768579A>G; NC_000017.10:g.39768579A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000478068.1, RCV000015712.23, RCV000057030.2, RCV000057029.1, |
