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: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		Nervous System Diseases; Mental Disorders 0.800 1.000 26 1995 2015
dbSNP: rs28936379
rs28936379 		0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		Nervous System Diseases; Mental Disorders 0.800 1.000 17 1995 2014
dbSNP: rs28936380
rs28936380 		0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		Nervous System Diseases; Mental Disorders 0.800 1.000 17 1995 2014
dbSNP: rs63750197
rs63750197 		0.925 0.120 1 226885570 missense variant C/T snv 6.8E-04 7.2E-04
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		Nervous System Diseases; Mental Disorders 0.800 1.000 13 1995 2014
dbSNP: rs140501902
rs140501902 		0.807 0.160 1 226883774 missense variant C/T snv 3.6E-03 3.4E-03
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		Nervous System Diseases; Mental Disorders 0.700 1.000 13 1995 2014
dbSNP: rs58973334
rs58973334 		0.882 0.080 1 226883748 missense variant G/A snv 8.6E-03 1.4E-02
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		Nervous System Diseases; Mental Disorders 0.700 1.000 13 1995 2014
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.100 1.000 13 1997 2018
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.050 1.000 5 1997 2018
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.050 1.000 5 1997 2010
dbSNP: rs63749884
rs63749884 		0.851 0.160 1 226888979 missense variant G/A snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.040 1.000 4 2000 2012
dbSNP: rs1553268799
rs1553268799 		1.000 0.080 1 226890135 splice donor variant TGA/- del
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		Nervous System Diseases; Mental Disorders 0.700 1.000 3 2008 2014
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: rs63749884
rs63749884 		0.851 0.160 1 226888979 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2000 2012
dbSNP: rs28936380
rs28936380 		0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2003 2005
dbSNP: rs28936380
rs28936380 		0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2003 2005
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2006 2008
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2006 2008
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 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 0.020 1.000 2 1997 2015
dbSNP: rs63750197
rs63750197 		0.925 0.120 1 226885570 missense variant C/T snv 6.8E-04 7.2E-04
CUI: C3150958
Disease: Cardiomyopathy, Dilated, 1V
Cardiomyopathy, Dilated, 1V 		Cardiovascular Diseases 0.800 1.000 1 2006 2006
dbSNP: rs1296171
rs1296171 		1.000 0.040 1 226871905 intron variant C/A;G snv
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1800674
rs1800674 		1 226898123 5 prime UTR variant A/G snv 0.54
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1163242089
rs1163242089 		1.000 0.080 1 226885673 missense variant C/G;T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
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: rs1295645
rs1295645 		1.000 0.040 1 226871336 5 prime UTR variant C/T snv 0.15
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2009 2009
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