Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
CUI: C4721893
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 		0.720 GeneticVariation BEFREE We analysed Peripheral Blood Mononuclear Cells (PBMC) profile of 164 inflammatory factors in patients with NHD carrying the TREM2 Q33X mutation as compared with heterozygous and wild type individuals. 30690291

2019
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
CUI: C4721893
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 		0.720 GeneticVariation BEFREE Mutations of Q33X, Y38C and T66M cause Nasu-Hakola disease (NHD) which is characterized by early onset of dementia and bone cysts. 25615530

2015
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
CUI: C4721893
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 		A 0.720 CausalMutation CLINVAR

dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		A 0.700 CausalMutation CLINVAR Evidence of CNS β-amyloid deposition in Nasu-Hakola disease due to the TREM2 Q33X mutation. 29142083

2017
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		A 0.700 CausalMutation CLINVAR Disease-Associated Mutations of TREM2 Alter the Processing of N-Linked Oligosaccharides in the Golgi Apparatus. 25615530

2015
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		A 0.700 CausalMutation CLINVAR Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature. 23399524

2013
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		A 0.700 CausalMutation CLINVAR The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. 15883308

2005
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		A 0.700 CausalMutation CLINVAR An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene. 12754369

2003
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
CUI: C1857316
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 GeneticVariation BEFREE Three variants in TREM2 (rs75932628 (R47H), rs2234255 (H157Y), and rs143332484 (R62H)) were significantly associated with AD risk, but the similar associations between rs104894002 (Q33X), rs2234253 (T96K), rs142232675 (D87N), rs2234256 (L211P), and AD were not proven. 30883352

2019
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 GeneticVariation BEFREE In overall meta-analysis, the summary ORs for rs75932628, rs104894002, and rs143332484 were 2.70 [95% CI: 2.24, 3.24; P < 0.001], 7.21 (95% CI: 1.28, 40.78; P = 0.025), and 1.65 (95% CI: 1.24, 2.21; P = 0.001), respectively, indicating that the TREM2 rs75932628, rs104894002, and rs143332484 may contribute to AD risk. 26037549

2015
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.010 GeneticVariation BEFREE Mutations of Q33X, Y38C and T66M cause Nasu-Hakola disease (NHD) which is characterized by early onset of dementia and bone cysts. 25615530

2015
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		0.010 GeneticVariation BEFREE Mutations of Q33X, Y38C and T66M cause Nasu-Hakola disease (NHD) which is characterized by early onset of dementia and bone cysts. 25615530

2015
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
CUI: C0497327
Disease: Dementia
Dementia 		0.010 GeneticVariation BEFREE Mutations of Q33X, Y38C and T66M cause Nasu-Hakola disease (NHD) which is characterized by early onset of dementia and bone cysts. 25615530

2015