PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
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: rs63750231
rs63750231
0.689 0.160 14 73198100 missense variant A/C;G snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.030 1.000 3 2000 2016
dbSNP: rs17125721
rs17125721
0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2005 2019
dbSNP: rs63749824
rs63749824
0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2007 2016
dbSNP: rs765670175
rs765670175
0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2006 2008
dbSNP: rs112451138
rs112451138
0.925 0.080 14 73192667 missense variant T/C snv 7.0E-06
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs63749835
rs63749835
0.851 0.080 14 73192799 missense variant T/C snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs63750004
rs63750004
0.851 0.080 14 73173655 missense variant T/A;C snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs63750082
rs63750082
0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs63750083
rs63750083
0.732 0.160 14 73219177 missense variant C/A;T snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs63750324
rs63750324
0.925 0.080 14 73198111 missense variant C/T snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs63750444
rs63750444
0.882 0.080 14 73192745 missense variant G/A snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs63750687
rs63750687
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs63750802
rs63750802
0.851 0.080 14 73219144 missense variant T/G snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs63750900
rs63750900
0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 1997 1997
dbSNP: rs63750907
rs63750907
0.807 0.120 14 73173667 missense variant C/T snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs63751032
rs63751032
0.851 0.080 14 73219156 missense variant T/A;G snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs63751037
rs63751037
0.790 0.080 14 73173642 missense variant A/G snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 1998 1998
dbSNP: rs63751068
rs63751068
0.827 0.120 14 73186920 missense variant G/C;T snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs63751399
rs63751399
0.882 0.120 14 73171047 missense variant T/A;C snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2000 2000