rs776142807
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs776142807(-;-) |
| Make rs776142807(-;A) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 183235622 |
| Gene | LAMC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs776142807 |
| dbSNP (classic) | rs776142807 |
| ClinGen | rs776142807 |
| ebi | rs776142807 |
| HLI | rs776142807 |
| Exac | rs776142807 |
| Gnomad | rs776142807 |
| Varsome | rs776142807 |
| LitVar | rs776142807 |
| Map | rs776142807 |
| PheGenI | rs776142807 |
| Biobank | rs776142807 |
| 1000 genomes | rs776142807 |
| hgdp | rs776142807 |
| ensembl | rs776142807 |
| geneview | rs776142807 |
| scholar | rs776142807 |
| rs776142807 | |
| pharmgkb | rs776142807 |
| gwascentral | rs776142807 |
| openSNP | rs776142807 |
| 23andMe | rs776142807 |
| SNPshot | rs776142807 |
| SNPdbe | rs776142807 |
| MSV3d | rs776142807 |
| GWAS Ctlg | rs776142807 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs776142807(-;-) |
| Alt | rs776142807(-;-) |
| Reference | Rs776142807(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Junctional epidermolysis bullosa gravis of Herlitz |
| Variation | info |
| Gene | LAMC2 |
| CLNDBN | Junctional epidermolysis bullosa gravis of Herlitz |
| Reversed | 0 |
| HGVS | NC_000001.10:g.183204757delA |
| CLNSRC | |
| CLNACC | RCV000412295.1, |
