rs775607037
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Carrier of a coenzyme Q10 deficiency mutation |
| (C;C) | 0 | common in clinvar |
| (T;T) | 5.6 | Coenzyme Q10 Deficiency; severity varies |
| Make rs775607037(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 9 |
| Position | 128332171 |
| Gene | COQ4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs775607037 |
| dbSNP (classic) | rs775607037 |
| ClinGen | rs775607037 |
| ebi | rs775607037 |
| HLI | rs775607037 |
| Exac | rs775607037 |
| Gnomad | rs775607037 |
| Varsome | rs775607037 |
| LitVar | rs775607037 |
| Map | rs775607037 |
| PheGenI | rs775607037 |
| Biobank | rs775607037 |
| 1000 genomes | rs775607037 |
| hgdp | rs775607037 |
| ensembl | rs775607037 |
| geneview | rs775607037 |
| scholar | rs775607037 |
| rs775607037 | |
| pharmgkb | rs775607037 |
| gwascentral | rs775607037 |
| openSNP | rs775607037 |
| 23andMe | rs775607037 |
| SNPshot | rs775607037 |
| SNPdbe | rs775607037 |
| MSV3d | rs775607037 |
| GWAS Ctlg | rs775607037 |
| Max Magnitude | 5.6 |
Note presence of both C>A and C>T mutations for this SNP; the C>T is considering pathogenic in ClinVar, whereas the C>A is not designated.
| ClinVar | |
|---|---|
| Risk | rs775607037(A;A) Rs775607037(T;T) |
| Alt | rs775607037(A;A) Rs775607037(T;T) |
| Reference | Rs775607037(C;C) |
| Significance | Pathogenic |
| Disease | Coenzyme Q10 deficiency |
| Variation | info |
| Gene | COQ4 |
| CLNDBN | Coenzyme Q10 deficiency, primary, 7 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.131094450C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000169635.5, |
