rs374270071
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs374270071(A;G) |
| Make rs374270071(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 14 |
| Position | 73961761 |
| Gene | COQ6, ENTPD5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs374270071 |
| dbSNP (classic) | rs374270071 |
| ClinGen | rs374270071 |
| ebi | rs374270071 |
| HLI | rs374270071 |
| Exac | rs374270071 |
| Gnomad | rs374270071 |
| Varsome | rs374270071 |
| LitVar | rs374270071 |
| Map | rs374270071 |
| PheGenI | rs374270071 |
| Biobank | rs374270071 |
| 1000 genomes | rs374270071 |
| hgdp | rs374270071 |
| ensembl | rs374270071 |
| geneview | rs374270071 |
| scholar | rs374270071 |
| rs374270071 | |
| pharmgkb | rs374270071 |
| gwascentral | rs374270071 |
| openSNP | rs374270071 |
| 23andMe | rs374270071 |
| SNPshot | rs374270071 |
| SNPdbe | rs374270071 |
| MSV3d | rs374270071 |
| GWAS Ctlg | rs374270071 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs374270071(G;G) |
| Alt | rs374270071(G;G) |
| Reference | Rs374270071(A;A) |
| Significance | Pathogenic |
| Disease | Coenzyme Q10 deficiency |
| Variation | info |
| Gene | COQ6 ENTPD5 |
| CLNDBN | Coenzyme Q10 deficiency, primary, 6 |
| Reversed | 0 |
| HGVS | NC_000014.8:g.74428464A>G |
| CLNSRC | |
| CLNACC | RCV000416384.1, |
