rs769151482
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CT;CT) | 0 | common in clinvar |
| Make rs769151482(-;-) |
| Make rs769151482(-;CT) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 209626876 |
| Gene | LAMB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs769151482 |
| dbSNP (classic) | rs769151482 |
| ClinGen | rs769151482 |
| ebi | rs769151482 |
| HLI | rs769151482 |
| Exac | rs769151482 |
| Gnomad | rs769151482 |
| Varsome | rs769151482 |
| LitVar | rs769151482 |
| Map | rs769151482 |
| PheGenI | rs769151482 |
| Biobank | rs769151482 |
| 1000 genomes | rs769151482 |
| hgdp | rs769151482 |
| ensembl | rs769151482 |
| geneview | rs769151482 |
| scholar | rs769151482 |
| rs769151482 | |
| pharmgkb | rs769151482 |
| gwascentral | rs769151482 |
| openSNP | rs769151482 |
| 23andMe | rs769151482 |
| SNPshot | rs769151482 |
| SNPdbe | rs769151482 |
| MSV3d | rs769151482 |
| GWAS Ctlg | rs769151482 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs769151482(-;-) |
| Alt | rs769151482(-;-) |
| Reference | Rs769151482(CT;CT) |
| Significance | Pathogenic |
| Disease | Junctional epidermolysis bullosa gravis of Herlitz |
| Variation | info |
| Gene | LAMB3 |
| CLNDBN | Junctional epidermolysis bullosa gravis of Herlitz |
| Reversed | 0 |
| HGVS | NC_000001.10:g.209800221_209800222delCT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015649.26, |
