rs4129585
This is a regulatory region variant variant in the TSNARE1 gene.
▶GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
schizophrenia
systolic blood pressure
autism spectrum disorder, schizophrenia
cognitive domain measurement
feeling nervous measurement
feeling tense measurement
diastolic blood pressure
anxiety measurement
depressive symptom measurement
neuroticism measurement
▶Research that mentions this SNP (1)
▶Common variants in QPCT gene confer risk of schizophrenia in the Han Chinese populationMethodsRaja Amjad Waheed Khan et al.(2016)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This paper presents CalPen, a web-based tool for calculating penetrance (disease likelihood given a mutation) in complex genetic disorders. The authors validated CalPen against published penetrance calculations for schizophrenia-associated copy number variants (CNVs) and single nucleotide polymorphisms (SNPs). They analyzed 15 CNVs in 39,059 schizophrenia patients and 55,084 controls (average penetrance 7%, ranging from ~1.4% for 15q11.2 deletions to ~20% for 22q11.21 CNVs) and 145 SNPs in 45,405 patients and 122,761 controls (average penetrance 0.7%, with rs1801028 showing the highest at 1.6%).
About TSNARE1
Predicted to enable SNAP receptor activity and SNARE binding activity. Predicted to be involved in intracellular protein transport; vesicle docking; and vesicle fusion. Predicted to be located in membrane. Predicted to be part of SNARE complex. Predicted to be active in synaptic vesicle. [provided by Alliance of Genome Resources, Jul 2025]
View all TSNARE1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…