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: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs8383
rs8383 		0.925 0.080 1 226895849 3 prime UTR variant C/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs8383
rs8383 		0.925 0.080 1 226895849 3 prime UTR variant C/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs61761208
rs61761208 		0.882 0.080 1 226885602 missense variant A/T snv
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63749851
rs63749851 		1.000 0.080 1 226885545 missense variant A/C snv
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		Nervous System Diseases; Mental Disorders 0.800 0
dbSNP: rs63749884
rs63749884 		0.851 0.160 1 226888979 missense variant G/A snv
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		Nervous System Diseases; Mental Disorders 0.800 0
dbSNP: rs63750048
rs63750048 		0.925 0.080 1 226883817 missense variant C/T snv 4.0E-06
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1347757721
rs1347757721 		1.000 0.080 1 226894058 missense variant G/C snv 7.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1215971988
rs1215971988 		1.000 0.080 1 226885618 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs1482790603
rs1482790603 		1.000 0.080 1 226891284 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs866044092
rs866044092 		1.000 0.080 1 226885629 missense variant G/A snv 7.0E-06
CUI: C3711380
Disease: Huntington Disease-Like Syndrome
Huntington Disease-Like Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs778936527
rs778936527 		0.925 0.080 1 226885669 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1996 1996
dbSNP: rs778936527
rs778936527 		0.925 0.080 1 226885669 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1996 1996
dbSNP: rs63750812
rs63750812 		0.925 0.080 1 226885623 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1998 1998
dbSNP: rs63750812
rs63750812 		0.925 0.080 1 226885623 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750666
rs63750666 		0.925 0.080 1 226895521 missense variant C/T snv 3.6E-05 2.1E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs63750666
rs63750666 		0.925 0.080 1 226895521 missense variant C/T snv 3.6E-05 2.1E-05
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750110
rs63750110 		1.000 0.080 1 226895548 missense variant A/C snv 3.6E-05 3.5E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2001 2001
dbSNP: rs533813519
rs533813519 		0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2015 2019
dbSNP: rs533813519
rs533813519 		0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs533813519
rs533813519 		0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05
CUI: C0023015
Disease: Language Disorders
Language Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs533813519
rs533813519 		0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs533813519
rs533813519 		0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs143061887
rs143061887 		0.925 0.080 1 226881960 missense variant C/T snv 1.6E-05 5.6E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs143061887
rs143061887 		0.925 0.080 1 226881960 missense variant C/T snv 1.6E-05 5.6E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2016 2016