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: rs708382
rs708382 		1.000 0.040 17 44364976 upstream gene variant T/C snv 0.39
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2011 2011
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs708382
rs708382 		1.000 0.040 17 44364976 upstream gene variant T/C snv 0.39
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.080 1.000 8 2009 2017
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.050 1.000 5 2009 2016
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.040 0.750 4 2009 2015
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.040 1.000 4 2008 2016
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.030 0.667 3 2009 2013
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		0.030 1.000 3 2010 2014
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2008 2016
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0236788
Disease: Bipolar II disorder
Bipolar II disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C4275079
Disease: Posterior cortical atrophy syndrome
Posterior cortical atrophy syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C1843792
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		0.010 1.000 1 2009 2009
dbSNP: rs5848
rs5848 		0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017