rs4693075
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs4693075(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 83271015 |
| Gene | COQ2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4693075 |
| dbSNP (classic) | rs4693075 |
| ClinGen | rs4693075 |
| ebi | rs4693075 |
| HLI | rs4693075 |
| Exac | rs4693075 |
| Gnomad | rs4693075 |
| Varsome | rs4693075 |
| LitVar | rs4693075 |
| Map | rs4693075 |
| PheGenI | rs4693075 |
| Biobank | rs4693075 |
| 1000 genomes | rs4693075 |
| hgdp | rs4693075 |
| ensembl | rs4693075 |
| geneview | rs4693075 |
| scholar | rs4693075 |
| rs4693075 | |
| pharmgkb | rs4693075 |
| gwascentral | rs4693075 |
| openSNP | rs4693075 |
| 23andMe | rs4693075 |
| SNPshot | rs4693075 |
| SNPdbe | rs4693075 |
| MSV3d | rs4693075 |
| GWAS Ctlg | rs4693075 |
| GMAF | 0.3292 |
| Max Magnitude | 0 |
Non-coding polymorphism in intron 4 of the COQ2 gene; referred to as 'SNP2' in [PMID 17376224
]
[PMID 17376224
] rs4693075(G;G) 2.3x odds of myopathy when taking statins
Warning: ambiguous flip confusion possible
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 23942138
] SLCO1B1 Genetic Variant Associated With Statin-Induced Myopathy: A Proof of Concept Study Using the Clinical Practice Research Datalink (CPRD)
[PMID 19406828
] Inverse correlation between HPSE gene single nucleotide polymorphisms and heparanase expression: possibility of multiple levels of heparanase regulation.
| ClinVar | |
|---|---|
| Risk | Rs4693075(C;C) rs4693075(T;T) |
| Alt | Rs4693075(C;C) rs4693075(T;T) |
| Reference | Rs4693075(G;G) |
| Significance | Drug-response |
| Disease | rosuvastatin response - Toxicity/ADR atorvastatin response - Toxicity/ADR hmg coa reductase inhibitors response - Toxicity/ADR |
| Variation | info |
| Gene | COQ2 |
| CLNDBN | rosuvastatin response - Toxicity/ADR atorvastatin response - Toxicity/ADR hmg coa reductase inhibitors response - Toxicity/ADR |
| Reversed | 0 |
| HGVS | NC_000004.11:g.84192168G>C |
| CLNSRC | PharmGKB Clinical Annotation |
| CLNACC | RCV000211139.1, RCV000211267.1, RCV000211353.1, |
