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rs3789243

From SNPedia

Orientationminus
Stabilizedminus
Make rs3789243(C;C)
Make rs3789243(C;T)
Make rs3789243(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position87591570
GeneABCB1
is asnp
is mentioned by
dbSNPrs3789243
ebirs3789243
HLIrs3789243
Exacrs3789243
Varsomers3789243
Maprs3789243
PheGenIrs3789243
hapmaprs3789243
1000 genomesrs3789243
hgdprs3789243
ensemblrs3789243
gopubmedrs3789243
geneviewrs3789243
scholarrs3789243
googlers3789243
pharmgkbrs3789243
gwascentralrs3789243
openSNPrs3789243
23andMers3789243
23andMe allrs3789243
SNP Nexus

SNPshotrs3789243
SNPdbers3789243
MSV3drs3789243
GWAS Ctlgrs3789243
GMAF0.4807
Max Magnitude
? (C;C) (C;T) (T;T) 28

A Danish case-control study comprising 373 Crohn's disease and 541 ulcerative colitis patients (and 796 healthy controls) concluded that carriers of the homozygous COX-2 and MDR1 intron 3 variant (rs3789243) had a relatively high risk of CD, odds ratio (95% CI) (OR (95% CI))=2.86 ((1.34-5.88) p=0.006) and 1.39 ((0.99-1.92) p=0.054), respectively, and for UC of 2.63 ((1.33-5.26) p=0.005) and 1.28 ((0.96-1.51) p=0.093), respectively, assuming complete dominance.[PMID 18819034]


[PMID 19450124] Gene-wide tagging study of association between ABCB1 polymorphisms and multidrug resistance in epilepsy in Han Chinese


[PMID 19685447] Genetic analysis of MDR1 and inflammatory bowel disease reveals protective effect of heterozygous variants for ulcerative colitis


OMIM171050
DescATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1
Variant
Relatedalso
OMIM612244
Desc
Variant
Relatedalso


[PMID 22176633] ABCB1/MDR1 polymorphism and colorectal cancer risk: a meta-analysis of case-control studies


[PMID 15197162OA-icon.png] Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene.


[PMID 16434479] ABCB1/MDR1 gene determines susceptibility and phenotype in ulcerative colitis: discrimination of critical variants using a gene-wide haplotype tagging approach.


[PMID 17828778] Role of the PXR gene locus in inflammatory bowel diseases.


[PMID 18424454OA-icon.png] ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence.


[PMID 19250544OA-icon.png] The multidrug resistance 1 (MDR1) gene polymorphism G-rs3789243-A is not associated with disease susceptibility in Norwegian patients with colorectal adenoma and colorectal cancer; a case control study.


[PMID 19930591OA-icon.png] Polymorphisms in the xenobiotic transporter Multidrug Resistance 1 (MDR1) and interaction with meat intake in relation to risk of colorectal cancer in a Danish prospective case-cohort study.


[PMID 21530324] Lack of association of ABCB1 haplotypes on five loci with response to treatment in epilepsy.


GET Evidence
rs3789243
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.523438
summary



[PMID 23279665] ABCB1/MDR1 gene polymorphism and colorectal cancer risk: a meta-analysis of case-control studies