rs530213004
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs530213004(A;A) |
| Make rs530213004(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 9 |
| Position | 128325810 |
| Gene | COQ4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs530213004 |
| dbSNP (classic) | rs530213004 |
| ClinGen | rs530213004 |
| ebi | rs530213004 |
| HLI | rs530213004 |
| Exac | rs530213004 |
| Gnomad | rs530213004 |
| Varsome | rs530213004 |
| LitVar | rs530213004 |
| Map | rs530213004 |
| PheGenI | rs530213004 |
| Biobank | rs530213004 |
| 1000 genomes | rs530213004 |
| hgdp | rs530213004 |
| ensembl | rs530213004 |
| geneview | rs530213004 |
| scholar | rs530213004 |
| rs530213004 | |
| pharmgkb | rs530213004 |
| gwascentral | rs530213004 |
| openSNP | rs530213004 |
| 23andMe | rs530213004 |
| SNPshot | rs530213004 |
| SNPdbe | rs530213004 |
| MSV3d | rs530213004 |
| GWAS Ctlg | rs530213004 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs530213004(A;A) rs530213004(C;C) rs530213004(T;T) |
| Alt | rs530213004(A;A) rs530213004(C;C) rs530213004(T;T) |
| Reference | Rs530213004(G;G) |
| Significance | Pathogenic |
| Disease | Coenzyme Q10 deficiency |
| Variation | info |
| Gene | COQ4 |
| CLNDBN | Coenzyme Q10 deficiency, primary, 7 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.131088089G>T |
| CLNSRC | |
| CLNACC | RCV000477704.1, |
