rs641615
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs641615(A;A) |
| Make rs641615(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 52519125 |
| Gene | KRT5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs641615 |
| dbSNP (classic) | rs641615 |
| ClinGen | rs641615 |
| ebi | rs641615 |
| HLI | rs641615 |
| Exac | rs641615 |
| Gnomad | rs641615 |
| Varsome | rs641615 |
| LitVar | rs641615 |
| Map | rs641615 |
| PheGenI | rs641615 |
| Biobank | rs641615 |
| 1000 genomes | rs641615 |
| hgdp | rs641615 |
| ensembl | rs641615 |
| geneview | rs641615 |
| scholar | rs641615 |
| rs641615 | |
| pharmgkb | rs641615 |
| gwascentral | rs641615 |
| openSNP | rs641615 |
| 23andMe | rs641615 |
| SNPshot | rs641615 |
| SNPdbe | rs641615 |
| MSV3d | rs641615 |
| GWAS Ctlg | rs641615 |
| GMAF | 0.253 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs641615(A;A) rs641615(G;G) |
| Alt | rs641615(A;A) rs641615(G;G) |
| Reference | Rs641615(C;C) |
| Significance | Non-pathogenic |
| Disease | not provided not specified Epidermolysis bullosa simplex |
| Variation | info |
| Gene | KRT5 |
| CLNDBN | not provided not specified Epidermolysis bullosa simplex |
| Reversed | 1 |
| HGVS | NC_000012.11:g.52912909G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000056634.1, RCV000250318.1, RCV000327778.1, |
