rs2229107

This is a variant in the ABCB1 gene that changes a serine to an threonine.

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ClinVar annotation

Likely Benign
2 submitters

ABCB1-related disorder

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Research that mentions this SNP (1)

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Case–control association study for 10 genes in patients with schizophrenia: influence of 5HTR1A variation rs10042486 on schizophrenia and response to antipsychotics
AssociationN=391Concetta Crisafulli et al.(2012)· European Archives of Psychiatry and Clinical Neuroscience

Case-control association study investigating 42 SNPs in 10 genes in 221 Korean schizophrenia inpatients and 170 healthy controls. The 5HTR1A variant rs10042486 showed significant association with schizophrenia (χ² = 11.32, p = 0.003) and clinical improvement on PANSS scores; subjects with TT genotype showed greater improvement than CC/CT carriers (F = 178.77, p = 0.002 for PANSS total; p < 0.001 for positive and negative subscales). No significant associations were found for the other 41 SNPs.

Traits studied:Antipsychotic responseSchizophrenia
PubMedDOIMetascience Observatory

About ABCB1

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Feb 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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