rs1080985
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0.1 | a common variant |
| (C;G) | 0.1 | a common variant |
| (G;G) | Homozygous for CYP2D6 variants (non-CYP2D6*1) |
| Reference | GRCh37 37.1/132 |
| Chromosome | 22 |
| Position | 42132375 |
| Gene | CYP2D6, LOC102723722, LOC107984152, LOC107987465, LOC107987477, LOC107987481 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1080985 |
| dbSNP (classic) | rs1080985 |
| ClinGen | rs1080985 |
| ebi | rs1080985 |
| HLI | rs1080985 |
| Exac | rs1080985 |
| Gnomad | rs1080985 |
| Varsome | rs1080985 |
| LitVar | rs1080985 |
| Map | rs1080985 |
| PheGenI | rs1080985 |
| Biobank | rs1080985 |
| 1000 genomes | rs1080985 |
| hgdp | rs1080985 |
| ensembl | rs1080985 |
| geneview | rs1080985 |
| scholar | rs1080985 |
| rs1080985 | |
| pharmgkb | rs1080985 |
| gwascentral | rs1080985 |
| openSNP | rs1080985 |
| 23andMe | rs1080985 |
| SNPshot | rs1080985 |
| SNPdbe | rs1080985 |
| MSV3d | rs1080985 |
| GWAS Ctlg | rs1080985 |
| GMAF | 0.1699 |
| Max Magnitude | 0.1 |
rs1080985 is a SNP near the CYP2D6 gene. Depending on the publication source, it may be called "-1584C/G" or "1496C>G" or the like.
The wild type (normal) allele at this SNP is (C). The (G) variant indicates the presence of a non-wild type CYP2D6 variant, but it appears in many different variants so it can not be used to determine the presence of any particular variant.
The rs1080985(G) allele defines the CYP2D6*2A variant, which has been reported to have relatively normal function yet in some cases may also lead to the intermediate metabolism phenotype.[PMID 11037799]
[PMID 19604081] Relevance of CYP2D6 -1584C>G polymorphism for thioridazine:mesoridazine plasma concentration ratio in psychiatric patients
[PMID 19738170
] Effect of a CYP2D6 polymorphism on the efficacy of donepezil in patients with Alzheimer disease
Please be careful when interpreting results for this SNP as it is in dbSNP and SNPedia in minus orientation where the risk allele is G, but test results are usually in plus orientation where the risk allele is C. This SNP has an ambiguous flip which can make this very confusing.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 22465999] Replication Study to Confirm the Role of CYP2D6 Polymorphism rs1080985 on Donepezil Efficacy in Alzheimer's Disease Patients.
[PMID 22688145] Clinical response and side effects of metoclopramide: associations with clinical, demographic, and pharmacogenetic parameters
[PMID 23133420] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
[PMID 31874497] [Effect of opioid-related gene polymorphisms on patients with high-dose opioid-tolerant cancer pain].
