Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05
CUI: C4721893
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 		0.720 1.000 2 2015 2019
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.700 1.000 5 2003 2017
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05
CUI: C1857316
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 		0.700 0
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2015 2019
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05
CUI: C0497327
Disease: Dementia
Dementia 		0.010 1.000 1 2015 2015
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		0.010 1.000 1 2015 2015
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.010 1.000 1 2015 2015