rs2255901

This variant is located in the DNMBP gene.

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ClinVar annotation

Benign★★★☆
3 submitters1 publication

Cataract 48; DNMBP-related disorder; not provided

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Research that mentions this SNP (1)

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Confronting complexity in late‐onset Alzheimer disease: application of two‐stage analysis approach addressing heterogeneity and epistasis
AssociationN=3,570Tricia A. Thornton‐Wells et al.(2008)· Genetic Epidemiology

This paper presents a two-stage analysis approach to identify genetic heterogeneity and gene-gene interactions in late-onset Alzheimer disease (LOAD). Using Bayesian Classification clustering followed by multifactor dimensionality reduction (MDR), the authors identified LRRTM3 as a primary stratification gene and found that markers in PLAU, ACE, and CDC2 were associated with LOAD specifically within distinct LRRTM3-defined subgroups, suggesting complex gene-gene interactions in LOAD etiology.

Traits studied:Late-onset Alzheimer disease
PubMedDOIMetascience Observatory

About DNMBP

This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

View all DNMBP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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