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