rs875740

This is a intron variant variant in the ABCC1 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

basophil percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 1.0e-13
N 408,112
Large GWAS
European

basophil count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR —
p 8.0e-15
N 577,663
Large GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 1.0e-15
N 408,112
Large GWAS
European
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Research that mentions this SNP (1)

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Mood‐Stabilizing Antiepileptic Treatment Response in Bipolar Disorder: A Genome‐Wide Association Study
AssociationN=199Ada Man‐Choi Ho et al.(2020)· Clinical Pharmacology &amp; Therapeutics

A genome-wide association study of 199 bipolar disorder patients identified two genome-wide significant SNP signals: rs78835388 in THSD7A (P = 7.1E-09) and rs114872993 in SLC35F3 (P = 3.2E-08) associated with mood-stabilizing antiepileptic drug (AED-MS) treatment response. Gene-level analysis also identified significant associations in ABCC1 (top SNP rs875740, P = 2.0E-6) and DISP1 (top SNP rs34701716, P = 8.9E-07). The findings suggest potential genetic markers for predicting AED-MS response in bipolar disorder treatment.

Traits studied:Antiepileptic mood stabilizer treatment responseBipolar disorder
PubMedDOIMetascience Observatory

About ABCC1

The 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 full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]

View all ABCC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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