rs182987047
This is a intron variant variant in the RIMS2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
disease progression measurement
▶Research that mentions this SNP (1)
▶A genome screen of successful aging without cognitive decline identifies LRP1B by haplotype analysisAssociationN=3,923Poduslo SE et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
A genome-wide survival meta-analysis of 3,923 Parkinson's disease patients identified three genome-wide significant loci associated with progression to Parkinson's disease dementia: APOE rs429358 (HR=2.41, P=2.32×10−15), LRP1B rs80306347 (HR=3.23, P=7.07×10−9), and BBS9 rs78294974 (HR=3.90, P=3.59×10−8). The study reveals APOE ε4 and LRP1B as major risk factors and suggests the amyloid pathway's involvement in dementia development.
About RIMS2
The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]
View all RIMS2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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