rs370148688
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs370148688(C;C) |
| Make rs370148688(C;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 209633135 |
| Gene | LAMB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs370148688 |
| dbSNP (classic) | rs370148688 |
| ClinGen | rs370148688 |
| ebi | rs370148688 |
| HLI | rs370148688 |
| Exac | rs370148688 |
| Gnomad | rs370148688 |
| Varsome | rs370148688 |
| LitVar | rs370148688 |
| Map | rs370148688 |
| PheGenI | rs370148688 |
| Biobank | rs370148688 |
| 1000 genomes | rs370148688 |
| hgdp | rs370148688 |
| ensembl | rs370148688 |
| geneview | rs370148688 |
| scholar | rs370148688 |
| rs370148688 | |
| pharmgkb | rs370148688 |
| gwascentral | rs370148688 |
| openSNP | rs370148688 |
| 23andMe | rs370148688 |
| SNPshot | rs370148688 |
| SNPdbe | rs370148688 |
| MSV3d | rs370148688 |
| GWAS Ctlg | rs370148688 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs370148688(C;C) rs370148688(G;G) |
| Alt | rs370148688(C;C) rs370148688(G;G) |
| Reference | Rs370148688(T;T) |
| 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.209806480T>C; NC_000001.10:g.209806480T>G |
| CLNSRC | |
| CLNACC | RCV000169196.1, RCV000411405.1, |
