PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
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: rs28936379
rs28936379 		0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs28936379
rs28936379 		0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs28936379
rs28936379 		0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs28936379
rs28936379 		0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs28936379
rs28936379 		0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1999 1999
dbSNP: rs28936380
rs28936380 		0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs28936380
rs28936380 		0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs574125890
rs574125890 		1.000 0.080 1 226888902 missense variant G/A;T snv 4.0E-06; 2.4E-04
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs61761208
rs61761208 		0.882 0.080 1 226885602 missense variant A/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs61761208
rs61761208 		0.882 0.080 1 226885602 missense variant A/T snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs63749884
rs63749884 		0.851 0.160 1 226888979 missense variant G/A snv
CUI: C0751295
Disease: Memory Loss
Memory Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs63749884
rs63749884 		0.851 0.160 1 226888979 missense variant G/A snv
CUI: C0002622
Disease: Amnesia
Amnesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs63750048
rs63750048 		0.925 0.080 1 226883817 missense variant C/T snv 4.0E-06
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs63750207
rs63750207 		1.000 0.080 1 226891773 missense variant C/G;T snv 4.4E-05; 4.0E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C2931784
Disease: Amyloid angiopathy
Amyloid angiopathy 		Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0004941
Disease: Behavioral Symptoms
Behavioral Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 1997 1997
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C1847651
Disease: Rapidly progressive dementia
Rapidly progressive dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2000 2000
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 1997 1997