Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893998
rs104893998
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C4748657
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		T 0.700 GeneticVariation CLINVAR Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. 12080485 2002
dbSNP: rs104893998
rs104893998
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C4748657
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		T 0.700 CausalMutation CLINVAR