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: rs121917807
rs121917807 		0.925 0.160 14 73198057 missense variant G/A 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: 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: rs1566630791
rs1566630791 		1.000 0.080 14 73173583 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 1 2020 2020
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: 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: rs281875357
rs281875357 		1.000 0.080 14 73219185 missense variant GC/TG mnv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63749805
rs63749805 		0.807 0.120 14 73173577 missense variant C/G;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: rs63749806
rs63749806 		0.827 0.080 14 73186902 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: 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: rs63749835
rs63749835 		0.851 0.080 14 73192799 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: rs63749836
rs63749836 		0.827 0.160 14 73192786 missense variant G/A 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: rs63749880
rs63749880 		0.925 0.080 14 73192720 missense variant G/A snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63749885
rs63749885 		0.882 0.080 14 73186859 missense variant 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 4 2010 2014
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: 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: rs63749937
rs63749937 		0.925 0.080 14 73198105 missense variant C/G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
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: rs63750009
rs63750009 		0.851 0.120 14 73192760 missense variant A/C;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
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
dbSNP: rs63750053
rs63750053 		0.827 0.120 14 73192721 missense variant 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 32 1995 2018
dbSNP: rs63750082
rs63750082 		0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.800 1.000 31 1995 2018