Rs5030655

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is asnp
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dbSNPrs5030655
nextbiors5030655
hapmaprs5030655
1000 genomesrs5030655
hgdprs5030655
ensemblrs5030655
gopubmedrs5030655
scholarrs5030655
googlers5030655
pharmgkbrs5030655
gwascentralrs5030655
openSNPrs5030655
23andMers5030655
23andMe allrs5030655
SNP Nexus

SNPshotrs5030655
SNPdbers5030655
MSV3drs5030655
GeneCYP2D6
Chromosome22
Orientationminus
Position42525086
ReferenceGRCh37 37.1/131
Max Magnitude3
Geno Mag Summary
(-;-) 3 CYP2D6*6 poor metabolizer phenotype
(-;T) 2.1 possible CYP2D6 poor metabolizer phenotype
(T;T) 0 normal
The (-) form of this SNP, representing a deletion of one nucleotide, causes a frameshift such that the resulting CYP2D6 protein is nonfunctional. The associated allele is also known as CYP2D6*6, and there are several subtypes but they are all nonfunctional.

If two copies of this (or similar) changes are inherited, CYP2D6 poor metabolism ('PM') is observed.

CYP2D6 poor metabolism may affect the efficacy or degree of side effects of drugs metabolized by CYP2D6, such as dextromorphan, sparteine, nortriptyline, venlafaxine and codeine.

Neighborrs3892097
Distance139
PharmGKBPA162372818
NameCYP2D6:1707 del T, part of CYP2D6*6
AnnotationThis variant is part of the CYP2D6*6 PM haplotype. Plasma concentrations of metoprolol were shown to be were 4.9-fold higher in the PMs, with greater reductions in heart rate, diastolic blood pressure, and mean arterial pressure in PMs than in non-PMs.
GeneCYP2D6
FeatueExon/NonSyn
EvidencePubMed ID:19037197; Web Resource:http://preview.pharmgkb.org/search/annotatedGene/cyp2d6/variant.jsp
Drugsmetoprolol
Diseases
Curation LevelCurated
PharmGKBPA161145188
NameCYP2D6*6, CYP2D6:1707 del T
AnnotationCauses a frameshift mutation that results in a truncated, non-functional version of CYP2D6 and is diagnostic for the haplotype CYP2D6*6.
GeneCYP2D6
FeatueExon/NonSyn
EvidenceWeb Resource:http://www.pharmgkb.org/search/annotatedGene/cyp2d6/variant.jsp#ImportantVariantInformationforCYP2D6-444
Drugs
Diseases
Curation LevelIn-Depth
PharmGKBPA162316613
NameCYP2D6:1707 del T, CYP2D6*6
AnnotationThis variant is the defining SNP for CYP2D6*6 and encodes a non-functional variant of CYP2D6. Individuals with CYP2D6 *6/*4 , *5/*4 or *6/*6 genotypes are poor metabolizers of venlafaxine and are more prone to drug-induced side effects such as nausea, vomiting and diarrhea. However, CYP2D6 genotype does not seem to influence venlafaxine efficacy.
GeneCYP2D6
FeatueExon/NonSyn
EvidencePubMed ID:16958828
Drugsvenlafaxine
DiseasesDepression, Depressive Disorder, Depressive Disorder, Major, Diarrhea, Drug Toxicity, Nausea, Vomiting
Curation LevelCurated
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