rs763559509
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs763559509(-;-) |
| Make rs763559509(-;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 209629891 |
| Gene | LAMB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs763559509 |
| dbSNP (classic) | rs763559509 |
| ClinGen | rs763559509 |
| ebi | rs763559509 |
| HLI | rs763559509 |
| Exac | rs763559509 |
| Gnomad | rs763559509 |
| Varsome | rs763559509 |
| LitVar | rs763559509 |
| Map | rs763559509 |
| PheGenI | rs763559509 |
| Biobank | rs763559509 |
| 1000 genomes | rs763559509 |
| hgdp | rs763559509 |
| ensembl | rs763559509 |
| geneview | rs763559509 |
| scholar | rs763559509 |
| rs763559509 | |
| pharmgkb | rs763559509 |
| gwascentral | rs763559509 |
| openSNP | rs763559509 |
| 23andMe | rs763559509 |
| SNPshot | rs763559509 |
| SNPdbe | rs763559509 |
| MSV3d | rs763559509 |
| GWAS Ctlg | rs763559509 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs763559509(-;-) |
| Alt | rs763559509(-;-) |
| Reference | Rs763559509(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Epidermolysis bullosa Junctional epidermolysis bullosa gravis of Herlitz |
| Variation | info |
| Gene | LAMB3 |
| CLNDBN | Epidermolysis bullosa, junctional Junctional epidermolysis bullosa gravis of Herlitz |
| Reversed | 0 |
| HGVS | NC_000001.10:g.209803236delG |
| CLNSRC | |
| CLNACC | RCV000399329.1, RCV000409820.1, |
