rs369573693
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs369573693(A;A) |
| Make rs369573693(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 40700387 |
| Gene | COQ8B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs369573693 |
| dbSNP (classic) | rs369573693 |
| ClinGen | rs369573693 |
| ebi | rs369573693 |
| HLI | rs369573693 |
| Exac | rs369573693 |
| Gnomad | rs369573693 |
| Varsome | rs369573693 |
| LitVar | rs369573693 |
| Map | rs369573693 |
| PheGenI | rs369573693 |
| Biobank | rs369573693 |
| 1000 genomes | rs369573693 |
| hgdp | rs369573693 |
| ensembl | rs369573693 |
| geneview | rs369573693 |
| scholar | rs369573693 |
| rs369573693 | |
| pharmgkb | rs369573693 |
| gwascentral | rs369573693 |
| openSNP | rs369573693 |
| 23andMe | rs369573693 |
| SNPshot | rs369573693 |
| SNPdbe | rs369573693 |
| MSV3d | rs369573693 |
| GWAS Ctlg | rs369573693 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs369573693(A;A) |
| Alt | rs369573693(A;A) |
| Reference | Rs369573693(G;G) |
| Significance | Pathogenic |
| Disease | Nephrotic syndrome |
| Variation | info |
| Gene | COQ8B ADCK4 |
| CLNDBN | Nephrotic syndrome, type 9 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.41206292G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000077756.4, |
