rs764587648
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs764587648(-;-) |
| Make rs764587648(-;A) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 19 |
| Position | 40703787 |
| Gene | COQ8B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs764587648 |
| dbSNP (classic) | rs764587648 |
| ClinGen | rs764587648 |
| ebi | rs764587648 |
| HLI | rs764587648 |
| Exac | rs764587648 |
| Gnomad | rs764587648 |
| Varsome | rs764587648 |
| LitVar | rs764587648 |
| Map | rs764587648 |
| PheGenI | rs764587648 |
| Biobank | rs764587648 |
| 1000 genomes | rs764587648 |
| hgdp | rs764587648 |
| ensembl | rs764587648 |
| geneview | rs764587648 |
| scholar | rs764587648 |
| rs764587648 | |
| pharmgkb | rs764587648 |
| gwascentral | rs764587648 |
| openSNP | rs764587648 |
| 23andMe | rs764587648 |
| SNPshot | rs764587648 |
| SNPdbe | rs764587648 |
| MSV3d | rs764587648 |
| GWAS Ctlg | rs764587648 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs764587648(-;-) |
| Alt | rs764587648(-;-) |
| Reference | Rs764587648(A;A) |
| Significance | Pathogenic |
| Disease | Nephrotic syndrome |
| Variation | info |
| Gene | COQ8B ADCK4 |
| CLNDBN | Nephrotic syndrome, type 9 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.41209692delA |
| CLNSRC | |
| CLNACC | RCV000416403.1, |
