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rs5030655

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 3 CYP2D6*6 poor metabolizer phenotype
(-;T) 2.1 possible CYP2D6 poor metabolizer phenotype
(T;T) 0 normal
ReferenceGRCh38 38.1/142
Chromosome22
Position42525086
GeneCYP2D6
is asnp
is mentioned by
dbSNPrs5030655
ebirs5030655
HLIrs5030655
Exacrs5030655
Varsomers5030655
Maprs5030655
PheGenIrs5030655
hapmaprs5030655
1000 genomesrs5030655
hgdprs5030655
ensemblrs5030655
gopubmedrs5030655
geneviewrs5030655
scholarrs5030655
googlers5030655
pharmgkbrs5030655
gwascentralrs5030655
openSNPrs5030655
23andMers5030655
23andMe allrs5030655
SNP Nexus

SNPshotrs5030655
SNPdbers5030655
MSV3drs5030655
GWAS Ctlgrs5030655
GMAF0.0101
Max Magnitude3
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
[PMID 20174590OA-icon.png] Response to serotonin reuptake inhibitors in OCD is not influenced by common CYP2D6 polymorphisms.


GET Evidence
CYP2D6-W152Shift
aa_change Trp152Shift
aa_change_short W152Shift
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0078125
summary



ClinVar
Risk rs5030655(;)
Alt rs5030655(;)
Reference rs5030655(T;T)
Significance Drug-response
Disease Debrisoquine
Variation info
Gene CYP2D6
CLNDBN Debrisoquine, poor metabolism of
Reversed 1
HGVS NC_000022.10:g.42525086delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000018387.28,