PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Familial Alzheimer's disease of 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: rs63750231
rs63750231 		0.689 0.160 14 73198100 missense variant A/C;G snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2011 2019
dbSNP: rs17125721
rs17125721 		0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.020 0.500 2 1998 2004
dbSNP: rs63750590
rs63750590 		0.790 0.120 14 73186860 missense variant A/G 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 1996 1997
dbSNP: rs571825723
rs571825723 		0.925 0.080 14 73211867 missense variant C/T snv 4.4E-05 2.8E-05
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs63749806
rs63749806 		0.827 0.080 14 73186902 missense variant T/C snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs63749885
rs63749885 		0.882 0.080 14 73186859 missense variant C/T snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs63750001
rs63750001 		0.851 0.080 14 73219188 missense variant C/T snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs63750082
rs63750082 		0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs63750083
rs63750083 		0.732 0.160 14 73219177 missense variant C/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 0.010 1.000 1 2006 2006
dbSNP: rs63750306
rs63750306 		0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1998 1998
dbSNP: rs63750601
rs63750601 		0.882 0.080 14 73170995 missense variant G/T snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1996 1996
dbSNP: rs63750886
rs63750886 		0.851 0.080 14 73198072 missense variant C/G snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs63751106
rs63751106 		0.827 0.080 14 73173643 missense variant T/A;C snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2001 2001
dbSNP: rs63751278
rs63751278 		0.827 0.120 14 73173631 missense variant A/G snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs63751287
rs63751287 		0.742 0.120 14 73192792 missense variant A/G;T snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs63751309
rs63751309 		0.882 0.080 14 73192733 missense variant T/C snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1996 1996