Variant: rs121908402 

    present in Gene: TREM2;LOC105375056
    present in Chromosome: 6
    Position on Chromosome: 41161277
    Alleles of this Variant: A/C

rs121908402 in TREM2;LOC105375056 gene and POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY PMID 15883308 2005 The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.

rs121908402 in TREM2;LOC105375056 gene and POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 PMID 15883308 2005 The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.

PMID 12754369 2003 An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene.

PMID 29142083 2017 Evidence of CNS β-amyloid deposition in Nasu-Hakola disease due to the TREM2 Q33X mutation.

PMID 28768830 2017 Neurodegeneration-associated mutant TREM2 proteins abortively cycle between the ER and ER-Golgi intermediate compartment.

PMID 27995897 2016 Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms.

PMID 12925681 2003 DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features.

PMID 23399524 2013 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature.

PMID 12080485 2002 Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.

PMID 25615530 2015 Disease-Associated Mutations of TREM2 Alter the Processing of N-Linked Oligosaccharides in the Golgi Apparatus.