Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753325601
rs753325601
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C0005937
Disease:
Bone Cysts
0.010 GeneticVariation BEFREE We detected a homozygous TREM2 R47C mutation in a patient with behavioral variant FTD without bone cysts or bone-associated phenotype. 29748150 2018