Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs75932628
rs75932628 		0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.900 0.923 52 2013 2020
dbSNP: rs121908402
rs121908402 		0.882 0.280 6 41161277 missense variant A/C snv 1.2E-05
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.800 1.000 9 2002 2017
dbSNP: rs28939079
rs28939079 		1.000 6 41159873 missense variant T/C snv 4.0E-06
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.800 1.000 9 2002 2017
dbSNP: rs75932628
rs75932628 		0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.080 1.000 8 2013 2019
dbSNP: rs75932628
rs75932628 		0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.080 0.875 8 2013 2016
dbSNP: rs75932628
rs75932628 		0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.070 0.857 7 2013 2020
dbSNP: rs75932628
rs75932628 		0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.060 0.833 6 2013 2016
dbSNP: rs75932628
rs75932628 		0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.060 0.833 6 2013 2015
dbSNP: rs104894002
rs104894002 		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: rs143332484
rs143332484 		1.000 0.080 6 41161469 missense variant C/A;T snv 7.6E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.740 0.800 5 2015 2019
dbSNP: rs2234255
rs2234255 		1.000 0.080 6 41159805 missense variant G/A snv 4.9E-03 1.8E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.050 1.000 5 2016 2019
dbSNP: rs75932628
rs75932628 		0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		Nervous System Diseases; Mental Disorders 0.040 1.000 4 2013 2016
dbSNP: rs104894002
rs104894002 		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 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2015 2019
dbSNP: rs104894002
rs104894002 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.720 1.000 2 2015 2019
dbSNP: rs2234253
rs2234253 		0.827 0.120 6 41161367 missense variant G/A;C;T snv 1.9E-04; 1.0E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2018 2019
dbSNP: rs75932628
rs75932628 		0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.020 0.500 2 2014 2015
dbSNP: rs75932628
rs75932628 		0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2013 2014
dbSNP: rs75932628
rs75932628 		0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2015 2018
dbSNP: rs75932628
rs75932628 		0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.020 0.500 2 2014 2015
dbSNP: rs75932628
rs75932628 		0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.020 1.000 2 2014 2015
dbSNP: rs7748513
rs7748513 		6 41160234 intron variant A/G snv 0.17
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 2 2012 2019
dbSNP: rs104893998
rs104893998 		0.925 0.240 6 41161421 stop gained C/T snv 8.0E-06
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.700 1.000 1 2002 2002
dbSNP: rs104893998
rs104893998 		0.925 0.240 6 41161421 stop gained C/T snv 8.0E-06
CUI: C1857316
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2003 2003
dbSNP: rs104894001
rs104894001 		1.000 6 41161522 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.700 1.000 1 2002 2002
dbSNP: rs104894002
rs104894002 		0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015