rs41303129
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 0 | Likely to be a benign variant according to ClinVar |
| (T;T) | 0 | Likely to be a benign variant according to ClinVar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 226982947 |
| Gene | ADCK3, COQ8A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41303129 |
| dbSNP (classic) | rs41303129 |
| ClinGen | rs41303129 |
| ebi | rs41303129 |
| HLI | rs41303129 |
| Exac | rs41303129 |
| Gnomad | rs41303129 |
| Varsome | rs41303129 |
| LitVar | rs41303129 |
| Map | rs41303129 |
| PheGenI | rs41303129 |
| Biobank | rs41303129 |
| 1000 genomes | rs41303129 |
| hgdp | rs41303129 |
| ensembl | rs41303129 |
| geneview | rs41303129 |
| scholar | rs41303129 |
| rs41303129 | |
| pharmgkb | rs41303129 |
| gwascentral | rs41303129 |
| openSNP | rs41303129 |
| 23andMe | rs41303129 |
| SNPshot | rs41303129 |
| SNPdbe | rs41303129 |
| MSV3d | rs41303129 |
| GWAS Ctlg | rs41303129 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | Rs41303129(T;T) |
| Alt | Rs41303129(T;T) |
| Reference | Rs41303129(C;C) |
| Significance | Pathogenic |
| Disease | Coenzyme Q10 deficiency not specified Spinocerebellar Ataxia not provided |
| Variation | info |
| Gene | COQ8A ADCK3 |
| CLNDBN | Coenzyme Q10 deficiency, primary, 4 not specified Spinocerebellar Ataxia, Recessive not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.227170648C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003830.5, RCV000180351.2, RCV000349332.1, RCV000415784.1, |
