rs28928896
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (T;T) | 0 |
| Make rs28928896(A;C) |
| Make rs28928896(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 41624236 |
| Gene | KRT17 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28928896 |
| dbSNP (classic) | rs28928896 |
| ClinGen | rs28928896 |
| ebi | rs28928896 |
| HLI | rs28928896 |
| Exac | rs28928896 |
| Gnomad | rs28928896 |
| Varsome | rs28928896 |
| LitVar | rs28928896 |
| Map | rs28928896 |
| PheGenI | rs28928896 |
| Biobank | rs28928896 |
| 1000 genomes | rs28928896 |
| hgdp | rs28928896 |
| ensembl | rs28928896 |
| geneview | rs28928896 |
| scholar | rs28928896 |
| rs28928896 | |
| pharmgkb | rs28928896 |
| gwascentral | rs28928896 |
| openSNP | rs28928896 |
| 23andMe | rs28928896 |
| SNPshot | rs28928896 |
| SNPdbe | rs28928896 |
| MSV3d | rs28928896 |
| GWAS Ctlg | rs28928896 |
| Max Magnitude | 0 |
During some blast and clustalw analysis of the watson genome, this snp is an outlier. It appears to occur in a fairly well conserved region, which appears slightly differently at several places in the genome.
| ClinVar | |
|---|---|
| Risk | rs28928896(C;C) rs28928896(G;G) |
| Alt | rs28928896(C;C) rs28928896(G;G) |
| Reference | Rs28928896(A;A) |
| Significance | Pathogenic |
| Disease | Pachyonychia congenita type 2 not provided Steatocystoma multiplex |
| Variation | info |
| Gene | KRT17 |
| CLNDBN | Pachyonychia congenita type 2 not provided Steatocystoma multiplex |
| Reversed | 1 |
| HGVS | NC_000017.10:g.39780488T>C; NC_000017.10:g.39780488T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015688.27, RCV000056510.1, RCV000015691.26, RCV000056509.1, |
