PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer Disease, Early Onset ×
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: rs1057518919
rs1057518919 		0.851 0.120 14 73171023 missense variant T/G snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1179768627
rs1179768627 		0.925 0.080 14 73198064 missense variant T/G snv 4.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs121917808
rs121917808 		0.882 0.080 14 73219192 missense variant C/A snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1998 1998
dbSNP: rs200576075
rs200576075 		0.925 0.080 14 73171031 missense variant C/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: rs63749806
rs63749806 		0.827 0.080 14 73186902 missense variant T/C snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs63749891
rs63749891 		0.851 0.080 14 73198094 missense variant G/C;T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1997 1997
dbSNP: rs63749925
rs63749925 		0.882 0.080 14 73219191 missense variant C/T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1999 1999
dbSNP: rs63749937
rs63749937 		0.925 0.080 14 73198105 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 2001 2001
dbSNP: rs63749961
rs63749961 		0.925 0.080 14 73192772 missense variant T/G snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs63750009
rs63750009 		0.851 0.120 14 73192760 missense variant A/C;G snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs63750082
rs63750082 		0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs63750083
rs63750083 		0.732 0.160 14 73219177 missense variant C/A;T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs63750248
rs63750248 		0.925 0.080 14 73198047 missense variant G/A;C;T snv 4.0E-06; 2.4E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1997 1997
dbSNP: rs63750265
rs63750265 		0.882 0.080 14 73186869 missense variant T/A;C;G snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2000 2000
dbSNP: rs63750306
rs63750306 		0.701 0.320 14 73173663 missense variant A/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 2016 2016
dbSNP: rs63750322
rs63750322 		0.925 0.080 14 73173654 missense variant A/G;T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1999 1999
dbSNP: rs63750487
rs63750487 		0.882 0.120 14 73192771 missense variant C/T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs63750524
rs63750524 		1.000 0.080 14 73198095 missense variant A/C snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs63750569
rs63750569 		0.925 0.080 14 73192711 missense variant G/A 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: rs63750588
rs63750588 		0.925 0.080 14 73173687 missense variant T/A snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs63750599
rs63750599 		0.827 0.160 14 73170963 missense variant T/C snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs63750646
rs63750646 		0.807 0.120 14 73217147 missense variant G/C snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1999 1999
dbSNP: rs63750687
rs63750687 		0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		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: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs63750815
rs63750815 		0.882 0.080 14 73170974 missense variant G/T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2002 2002