rs60554162
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | homozygote for pachyonyitia congenita Type I mutation |
| (A;G) | 3 | heterozygote for pachyonychia congenita Type I mutation |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 52488338 |
| Gene | KRT6A, LOC107984511 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs60554162 |
| dbSNP (classic) | rs60554162 |
| ClinGen | rs60554162 |
| ebi | rs60554162 |
| HLI | rs60554162 |
| Exac | rs60554162 |
| Gnomad | rs60554162 |
| Varsome | rs60554162 |
| LitVar | rs60554162 |
| Map | rs60554162 |
| PheGenI | rs60554162 |
| Biobank | rs60554162 |
| 1000 genomes | rs60554162 |
| hgdp | rs60554162 |
| ensembl | rs60554162 |
| geneview | rs60554162 |
| scholar | rs60554162 |
| rs60554162 | |
| pharmgkb | rs60554162 |
| gwascentral | rs60554162 |
| openSNP | rs60554162 |
| 23andMe | rs60554162 |
| SNPshot | rs60554162 |
| SNPdbe | rs60554162 |
| MSV3d | rs60554162 |
| GWAS Ctlg | rs60554162 |
| 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 148041.0003
| ClinVar | |
|---|---|
| Risk | Rs60554162(A;A) |
| Alt | Rs60554162(A;A) |
| Reference | Rs60554162(G;G) |
| Significance | Pathogenic |
| Disease | PC-K6a not provided |
| Variation | info |
| Gene | KRT6A |
| CLNDBN | PC-K6a not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.52882122C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015742.27, RCV000056998.2, |
