Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
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
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
A 0.720 CausalMutation CLINVAR

dbSNP: rs104894732
rs104894732
TYROBP
G 0.700 CausalMutation CLINVAR

dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
0.010 GeneticVariation BEFREE In contrast, CSF sTREM2 levels were significantly higher in R47H carriers compared to non-carriers (P = 6×10(-3)), suggesting that this variant does not impact protein expression and increases AD risk through a different pathogenic mechanism than NHD variants. 26754641

2016
dbSNP: rs201258663
rs201258663
TREM2 ; LOC105375056
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: rs797044603
rs797044603
TREM2 ; LOC105375056
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