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rs16947

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 Homozygous for CYP2D6 variants (non-CYP2D6*1)
(A;G) 0.1 a common variant
(G;G) 0 normal
ReferenceGRCh37 37.1/131
Chromosome22
Position42523943
GeneCYP2D6
is asnp
is mentioned by
dbSNPrs16947
ebirs16947
HLIrs16947
Exacrs16947
Varsomers16947
Maprs16947
PheGenIrs16947
hapmaprs16947
1000 genomesrs16947
hgdprs16947
ensemblrs16947
gopubmedrs16947
geneviewrs16947
scholarrs16947
googlers16947
pharmgkbrs16947
gwascentralrs16947
openSNPrs16947
23andMers16947
23andMe allrs16947
SNP Nexus

SNPshotrs16947
SNPdbers16947
MSV3drs16947
GWAS Ctlgrs16947
GMAF0.3425
Max Magnitude0.1

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 7903454OA-icon.png].

OMIM124030
DescDEBRISOQUINE, ULTRARAPID METABOLISM OF
Variant0007
Relatedalso
Neighborrs1065852
Distance2751
[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.


[PMID 18698231OA-icon.png] 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.


GET Evidence
CYP2D6-C296R
aa_change Cys296Arg
aa_change_short C296R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.599423
summary



[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
CLNACC RCV000018391.27,



[PMID 23130019OA-icon.png] Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.


[PMID 23133420OA-icon.png] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.