rs16947
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | Homozygous for CYP2D6 variants (non-CYP2D6*1) |
| (A;G) | 0.1 | a common variant |
| (G;G) | 0 | normal |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 22 |
| Position | 42127941 |
| Gene | CYP2D6, LOC102723722, LOC107987465, LOC107987481 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs16947 |
| dbSNP (classic) | rs16947 |
| ClinGen | rs16947 |
| ebi | rs16947 |
| HLI | rs16947 |
| Exac | rs16947 |
| Gnomad | rs16947 |
| Varsome | rs16947 |
| LitVar | rs16947 |
| Map | rs16947 |
| PheGenI | rs16947 |
| Biobank | rs16947 |
| 1000 genomes | rs16947 |
| hgdp | rs16947 |
| ensembl | rs16947 |
| geneview | rs16947 |
| scholar | rs16947 |
| rs16947 | |
| pharmgkb | rs16947 |
| gwascentral | rs16947 |
| openSNP | rs16947 |
| 23andMe | rs16947 |
| SNPshot | rs16947 |
| SNPdbe | rs16947 |
| MSV3d | rs16947 |
| GWAS Ctlg | rs16947 |
| GMAF | 0.3425 |
| Max Magnitude | 0.1 |
The wild type (normal) allele at this SNP is (G). The (A) 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.
Inheriting a normal number of copies of this allele results in CYP2D6 function that is indistinguishable from wild-type (normal) activity. However, this variant has been seen present in higher copy numbers, and in these cases, can result in the ultrafast metabolizer phenotype [PMID 7903454
].
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18698231] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
[PMID 21071160] Analysis of 50 SNPs in CYP2D6, CYP2C19, CYP2C9, CYP3A4 and CYP1A2 by MALDI-TOF mass spectrometry in Chinese Han population.
[PMID 21840870] Association of ABCB1, 5-HT3B receptor and CYP2D6 genetic polymorphisms with ondansetron and metoclopramide antiemetic response in Indonesian cancer patients treated with highly emetogenic chemotherapy.
[PMID 22688145] Clinical response and side effects of metoclopramide: associations with clinical, demographic, and pharmacogenetic parameters
| ClinVar | |
|---|---|
| Risk | Rs16947(G;G) |
| Alt | Rs16947(G;G) |
| Reference | Rs16947(A;A) |
| Significance | Drug-response |
| Disease | Debrisoquine |
| Variation | info |
| Gene | CYP2D6 |
| CLNDBN | Debrisoquine, ultrarapid metabolism of |
| Reversed | 0 |
| HGVS | NC_000022.10:g.42523943A\x3d |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018391.27, |
[PMID 23130019] Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.
[PMID 23133420] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
[PMID 28343093] Influence of genetic variants of CYP2D6, CYP2C9, CYP2C19 and CYP3A4 on antiepileptic drug metabolism in pediatric patients with refractory epilepsy.
