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rs10248420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 7x less likely to respond to certain antidepressants
(A;G) 1 7x more likely to respond to certain antidepressants
(G;G) 1 7x more likely to respond to certain antidepressants
ReferenceGRCh38 38.1/141
Chromosome7
Position87535670
GeneABCB1
is asnp
is mentioned by
dbSNPrs10248420
ebirs10248420
HLIrs10248420
Exacrs10248420
Varsomers10248420
Maprs10248420
PheGenIrs10248420
hapmaprs10248420
1000 genomesrs10248420
hgdprs10248420
ensemblrs10248420
gopubmedrs10248420
geneviewrs10248420
scholarrs10248420
googlers10248420
pharmgkbrs10248420
gwascentralrs10248420
openSNPrs10248420
23andMers10248420
23andMe allrs10248420
SNP Nexus

SNPshotrs10248420
SNPdbers10248420
MSV3drs10248420
GWAS Ctlgrs10248420
GMAF0.3476
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs10248420 is a SNP in the ABCB1 gene (also known as the MDR1 gene), which encodes a protein that transports certain molecules across the blood-brain barrier. SNPs in ABCB1 may thus influence the intracerebral concentrations of certain drugs and thus their efficacy or potential for adverse side effects. rs10248420 is one of 9 SNPs found within a tight linkage block (r2 >= 0.8 ) such that the minor allele at any one of them predicts (with ~80%+ accuracy) that the other SNPs will also be the minor allele. The list of the 9 SNPs is shown below.

When treated for depression with substrates of the protein encoded by ABCB1, carriers of one or two minor alleles at these ABCB1 SNPs have been reported to respond better than non-carriers. The antidepressant drugs that are known to be substrates include citalopram, paroxetine, amitriptyline, and venlafaxine. The relative odds of better response for rs10248420(G) carriers is 7.72 (CI: 2.8-21.3, p=0.000065) based on a study of ~400 primarily Caucasian patients.10.1016/j.neuron.2007.11.017

The 9 SNPs in the linkage block identified are 10.1016/j.neuron.2007.11.017:

[PMID 19107781] rs10248420 and rs2032583 associated with colonic disease

Neighborrs2235040
Distance764
[PMID 15197162OA-icon.png] Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene.


GET Evidence
rs10248420
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.328125
summary



[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.