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rs1135840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2 Homozygous for CYP2D6 variants (non-CYP2D6*1)
(C;G) 1.5 Carrier of at least one CYP2D6 variants (non-CYP2D6*1)
(G;G) 0 normal
ReferenceGRCh37 37.1/131
Chromosome22
Position42522613
GeneCYP2D6
is asnp
is mentioned by
dbSNPrs1135840
ebirs1135840
HLIrs1135840
Exacrs1135840
Varsomers1135840
Maprs1135840
PheGenIrs1135840
hapmaprs1135840
1000 genomesrs1135840
hgdprs1135840
ensemblrs1135840
gopubmedrs1135840
geneviewrs1135840
scholarrs1135840
googlers1135840
pharmgkbrs1135840
gwascentralrs1135840
openSNPrs1135840
23andMers1135840
23andMe allrs1135840
SNP Nexus

SNPshotrs1135840
SNPdbers1135840
MSV3drs1135840
GWAS Ctlgrs1135840
GMAF0.4008
Max Magnitude2

rs1135840, also known as 4180G>C or S486T, is a SNP in the CYP2D6 gene.

The wild type (normal) allele at this SNP is (G). The (C) 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.

Please be careful when interpreting results for this SNP as it is in dbSNP and SNPedia in minus orientation where the risk allele is C, but test results are usually in plus orientation where the risk allele is G. This SNP has an ambiguous flip which can make this very confusing.



OMIM124030
Desc
Variant0007
Relatedalso
[PMID 18698231OA-icon.png] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.


GET Evidence
CYP2D6-T486S
aa_change Thr486Ser
aa_change_short T486S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.409243
summary



ClinVar
Risk rs1135840(G;G)
Alt rs1135840(G;G)
Reference rs1135840(C;C)
Significance Drug-response
Disease Debrisoquine
Variation info
Gene CYP2D6
CLNDBN Debrisoquine, ultrarapid metabolism of
Reversed 1
HGVS NC_000022.10:g.42522613G\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000018391.27,



[PMID 22722500] Association study of 27 annotated genes for clozapine pharmacogenetics: validation of preexisting studies and identification of a new candidate gene, ABCB1, for treatment response.


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