rs805698
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs805698(C;T) |
| Make rs805698(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 104057158 |
| Gene | COL17A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs805698 |
| dbSNP (classic) | rs805698 |
| ClinGen | rs805698 |
| ebi | rs805698 |
| HLI | rs805698 |
| Exac | rs805698 |
| Gnomad | rs805698 |
| Varsome | rs805698 |
| LitVar | rs805698 |
| Map | rs805698 |
| PheGenI | rs805698 |
| Biobank | rs805698 |
| 1000 genomes | rs805698 |
| hgdp | rs805698 |
| ensembl | rs805698 |
| geneview | rs805698 |
| scholar | rs805698 |
| rs805698 | |
| pharmgkb | rs805698 |
| gwascentral | rs805698 |
| openSNP | rs805698 |
| 23andMe | rs805698 |
| SNPshot | rs805698 |
| SNPdbe | rs805698 |
| MSV3d | rs805698 |
| GWAS Ctlg | rs805698 |
| GMAF | 0.1589 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs805698(T;T) |
| Alt | rs805698(T;T) |
| Reference | Rs805698(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Epidermolysis bullosa |
| Variation | info |
| Gene | COL17A1 |
| CLNDBN | not specified Epidermolysis bullosa, junctional |
| Reversed | 0 |
| HGVS | NC_000010.10:g.105816916C>T |
| CLNSRC | |
| CLNACC | RCV000244902.1, RCV000344715.1, |
