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: 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: rs63750888
rs63750888 		0.925 0.080 14 73192828 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 2006 2006
dbSNP: rs63751320
rs63751320 		1.000 0.080 14 73192862 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 2003 2003
dbSNP: rs63750231
rs63750231 		0.689 0.160 14 73198100 missense variant A/C;G snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.050 1.000 5 1997 2016
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: rs747363386
rs747363386 		1.000 0.080 14 73173669 missense variant A/C;G 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 1998 1998
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: rs17125721
rs17125721 		0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.040 0.500 4 2000 2013
dbSNP: rs63751037
rs63751037 		0.790 0.080 14 73173642 missense variant A/G snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 1998 2003
dbSNP: rs63751254
rs63751254 		0.851 0.160 14 73217210 missense variant A/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: 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: rs63751287
rs63751287 		0.742 0.120 14 73192792 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 2001 2001
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: 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: 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: rs63751019
rs63751019 		0.925 0.080 14 73198066 missense variant C/G snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 1996 2004
dbSNP: rs63751235
rs63751235 		0.807 0.120 14 73198117 missense variant C/G 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: rs63751416
rs63751416 		0.925 0.080 14 73217170 missense variant C/G 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: rs63751441
rs63751441 		0.882 0.080 14 73173684 missense variant C/G;T snv 5.2E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs63750577
rs63750577 		0.827 0.120 14 73186881 missense variant C/T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2007 2013
dbSNP: rs63750730
rs63750730 		0.827 0.120 14 73173574 missense variant C/T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2004 2015
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: 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: 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