Disease: Dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766647311
rs766647311
Entrez Id: 54209;340205;105375056
Gene Symbol: TREM2;TREML1;LOC105375056
TREM2;TREML1;LOC105375056
CUI: C0497327
Disease:
Dementia 		0.010 GeneticVariation BEFREE Our results, suggest that a p.(Gly145Trp)-induced structural disturbance and functional impairment of TREM2 may contribute to the pathogenesis of an AD-like form of dementia. 31464095 2020
dbSNP: rs766647311
rs766647311
Entrez Id: 54209;340205;105375056
Gene Symbol: TREM2;TREML1;LOC105375056
TREM2;TREML1;LOC105375056
CUI: C0497327
Disease:
Dementia 		0.010 GeneticVariation BEFREE In a whole-exome sequencing study of a family with probable AD-type dementia without pathogenic variants in known autosomal dominant dementia disease genes and negative for the apolipoprotein E (APOE) ε4 allele, we identified an extremely rare TREM2 coding variant, that is, a glycine-to-tryptophan substitution at amino acid position 145 (NM_018965.3:c.433G>T/p.[Gly145Trp]). 31464095 2020