rs12445568

This variant is located in the STX1B gene.

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GWAS Catalog Trait Associations (3)

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

psoriasis

Tsoi LC et al. “Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.” Nature Genetics 44(12):1341-8 (2012)
Allele C
OR 1.16
p 1.0e-16
N 33,394
Large GWAS
European

neuroticism measurement

Luciano M et al. “Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism.” Nature Genetics 50(1):6-11 (2018)
Allele T
OR 6.59
p 4.0e-11
N 329,821
Large GWAS
European

psoriasis vulgaris

Stuart PE et al. “Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.” American Journal of Human Genetics 97(6):816-36 (2015)
Allele C
OR 1.16
p 5.0e-11
N 8,941
Large GWAS
European
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ClinVar annotation

Benign★★★☆
8 submitters3 publications

not provided; Generalized epilepsy with febrile seizures plus, type 9; Inborn genetic diseases; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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Interindividual Variability in the Hepatic Expression of the Human Breast Cancer Resistance Protein (BCRP/ABCG2): Effect of Age, Sex, and Genotype
AssociationN=1,000Bhagwat Prasad et al.(2013)· Journal of Pharmaceutical Sciences

Case-control study of 1,000 Han Chinese individuals (450 epilepsy cases, 550 controls) examining associations between STX1B polymorphisms and epilepsy treatment response. The rs140820592 variant showed significant association with reduced epilepsy risk (OR=0.542, p=0.004) and drug-resistant epilepsy risk (OR=0.260, p=0.004), with eQTL analysis confirming rs140820592 regulates STX1B expression in brain tissues.

Traits studied:Drug-resistant epilepsyDrug-responsive epilepsyEpilepsyImatinib response in chronic myelogenous leukemiaPraziquantel responseTacrolimus metabolism
PubMedDOIMetascience Observatory

About STX1B

The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]

View all STX1B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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