rs730880125
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs730880125(C;T) |
| Make rs730880125(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 49124920 |
| Gene | LAMB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730880125 |
| dbSNP (classic) | rs730880125 |
| ClinGen | rs730880125 |
| ebi | rs730880125 |
| HLI | rs730880125 |
| Exac | rs730880125 |
| Gnomad | rs730880125 |
| Varsome | rs730880125 |
| LitVar | rs730880125 |
| Map | rs730880125 |
| PheGenI | rs730880125 |
| Biobank | rs730880125 |
| 1000 genomes | rs730880125 |
| hgdp | rs730880125 |
| ensembl | rs730880125 |
| geneview | rs730880125 |
| scholar | rs730880125 |
| rs730880125 | |
| pharmgkb | rs730880125 |
| gwascentral | rs730880125 |
| openSNP | rs730880125 |
| 23andMe | rs730880125 |
| SNPshot | rs730880125 |
| SNPdbe | rs730880125 |
| MSV3d | rs730880125 |
| GWAS Ctlg | rs730880125 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs730880125(T;T) |
| Alt | rs730880125(T;T) |
| Reference | Rs730880125(C;C) |
| Significance | Pathogenic |
| Disease | Pierson syndrome |
| Variation | info |
| Gene | LAMB2 |
| CLNDBN | Pierson syndrome |
| Reversed | 1 |
| HGVS | NC_000003.11:g.49162353G>A |
| CLNSRC | |
| CLNACC | RCV000157282.1, |
