rs769399002
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs769399002(-;-) |
| Make rs769399002(-;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 3 |
| Position | 49122063 |
| Gene | LAMB2, USP19 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs769399002 |
| dbSNP (classic) | rs769399002 |
| ClinGen | rs769399002 |
| ebi | rs769399002 |
| HLI | rs769399002 |
| Exac | rs769399002 |
| Gnomad | rs769399002 |
| Varsome | rs769399002 |
| LitVar | rs769399002 |
| Map | rs769399002 |
| PheGenI | rs769399002 |
| Biobank | rs769399002 |
| 1000 genomes | rs769399002 |
| hgdp | rs769399002 |
| ensembl | rs769399002 |
| geneview | rs769399002 |
| scholar | rs769399002 |
| rs769399002 | |
| pharmgkb | rs769399002 |
| gwascentral | rs769399002 |
| openSNP | rs769399002 |
| 23andMe | rs769399002 |
| SNPshot | rs769399002 |
| SNPdbe | rs769399002 |
| MSV3d | rs769399002 |
| GWAS Ctlg | rs769399002 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs769399002(-;-) |
| Alt | rs769399002(-;-) |
| Reference | Rs769399002(G;G) |
| Significance | Pathogenic |
| Disease | Nephrotic syndrome |
| Variation | info |
| Gene | LAMB2 USP19 |
| CLNDBN | Nephrotic syndrome, type 5, with or without ocular abnormalities |
| Reversed | 0 |
| HGVS | NC_000003.11:g.49159496delG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015637.27, |
