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rs5030865

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 2 CYP2D6*8 inactive type homozygote
(A;C) 2 carrier of one CYP2D6*8 inactive type allele
(A;T) 2 carrier of one CYP2D6*8 and one CYP2D6*14 inactive type alleles
(C;C) 1 normal
(C;T) 2 carrier of one CYP2D6*14 inactive type allele
(T;T) 2 CYP2D6*14 inactive type homozygote
ReferenceGRCh37 37.1/131
Chromosome22
Position42525035
GeneCYP2D6
is asnp
is mentioned by
dbSNPrs5030865
ebirs5030865
HLIrs5030865
Exacrs5030865
Varsomers5030865
Maprs5030865
PheGenIrs5030865
hapmaprs5030865
1000 genomesrs5030865
hgdprs5030865
ensemblrs5030865
gopubmedrs5030865
geneviewrs5030865
scholarrs5030865
googlers5030865
pharmgkbrs5030865
gwascentralrs5030865
openSNPrs5030865
23andMers5030865
23andMe allrs5030865
SNP Nexus

SNPshotrs5030865
SNPdbers5030865
MSV3drs5030865
GWAS Ctlgrs5030865
GMAF0.0009183
Max Magnitude2

rs5030865 is a SNP in the CYP2D6 gene which defines two inactive variants, CYP2D6*8 and CYP2D6*14. This SNP has changed orientation in different reference genome builds and also has more than two allele changes possible, so references to it can be very confusing. The below are in genome build 37.1 plus orientation, while the "also knowns" are in minus orientation:

rs5030865(C) is the normal variant
rs5030865(A) is the CYP2D6*8 inactive variant, also known as 1758G>T or G169X
rs5030865(T) is the CYP2D6*14 inactive variant, also known as 1758G>A or G169R

OMIM124030
Desc
Variant0004
Relatedalso


ClinVar
Risk rs5030865(A,T;A,T)
Alt rs5030865(A,T;A,T)
Reference rs5030865(C;C)
Significance Drug-response
Disease Debrisoquine
Variation info
Gene CYP2D6
CLNDBN Debrisoquine, poor metabolism of
Reversed 0
HGVS NC_000022.10:g.42525035C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018388.29,



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