PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer disease, familial, type 3 ×
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: rs661
rs661 		0.807 0.120 14 73217225 missense variant G/A;T snv 4.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.800 1.000 17 1995 2017
dbSNP: rs63749824
rs63749824 		0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.800 1.000 4 2010 2014
dbSNP: rs63751163
rs63751163 		0.807 0.120 14 73192844 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.800 1.000 4 2010 2014
dbSNP: rs63751235
rs63751235 		0.807 0.120 14 73198117 missense variant C/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.800 1.000 4 2010 2014
dbSNP: rs63751278
rs63751278 		0.827 0.120 14 73173631 missense variant A/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 4 1997 2017
dbSNP: rs1566650594
rs1566650594 		0.851 0.120 14 73206384 splice acceptor variant A/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 3 2010 2017
dbSNP: rs63751287
rs63751287 		0.742 0.120 14 73192792 missense variant A/G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.800 1.000 3 2001 2018
dbSNP: rs63750852
rs63750852 		0.790 0.120 14 73170998 missense variant G/A;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750907
rs63750907 		0.807 0.120 14 73173667 missense variant C/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63751024
rs63751024 		0.851 0.120 14 73192793 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63751068
rs63751068 		0.827 0.120 14 73186920 missense variant G/C;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63749891
rs63749891 		0.851 0.080 14 73198094 missense variant G/C;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.800 1.000 24 1995 2018
dbSNP: rs63750155
rs63750155 		1.000 0.080 14 73186904 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 24 1995 2018
dbSNP: rs63750227
rs63750227 		1.000 0.080 14 73217221 missense variant G/A snv 7.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 24 1995 2018
dbSNP: rs63750265
rs63750265 		0.882 0.080 14 73186869 missense variant T/A;C;G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.800 1.000 24 1995 2018
dbSNP: rs63750592
rs63750592 		1.000 0.080 14 73170813 missense variant G/A snv 1.8E-04 2.9E-04
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 24 1995 2018
dbSNP: rs121917808
rs121917808 		0.882 0.080 14 73219192 missense variant C/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.800 1.000 20 1995 2018
dbSNP: rs267606983
rs267606983 		0.925 0.080 14 73192744 missense variant G/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63749911
rs63749911 		1.000 0.080 14 73186901 missense variant T/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63749925
rs63749925 		0.882 0.080 14 73219191 missense variant C/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63749967
rs63749967 		1.000 0.080 14 73170953 missense variant G/C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63749970
rs63749970 		1.000 0.080 14 73192780 missense variant A/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63750001
rs63750001 		0.851 0.080 14 73219188 missense variant C/T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63750004
rs63750004 		0.851 0.080 14 73173655 missense variant T/A;C snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63750050
rs63750050 		0.925 0.080 14 73198106 missense variant T/G snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018