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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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