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: rs63750248
rs63750248 		0.925 0.080 14 73198047 missense variant G/A;C;T snv 4.0E-06; 2.4E-05
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: rs63750284
rs63750284 		1.000 0.080 14 73198082 missense variant 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: rs63750299
rs63750299 		0.925 0.080 14 73186890 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: rs63750301
rs63750301 		0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06
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: rs63750311
rs63750311 		0.790 0.240 14 73192647 missense variant 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: rs63750321
rs63750321 		1.000 0.080 14 73171024 missense variant T/G snv 4.0E-06
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: rs63750322
rs63750322 		0.925 0.080 14 73173654 missense variant A/G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63750323
rs63750323 		1.000 0.080 14 73217129 missense variant G/C;T snv 4.0E-06
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: rs63750353
rs63750353 		0.925 0.080 14 73173630 missense variant A/G;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 1.000 20 1995 2018
dbSNP: rs63750418
rs63750418 		0.882 0.120 14 73186877 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: rs63750522
rs63750522 		0.827 0.120 14 73173644 missense variant G/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: rs63750543
rs63750543 		1.000 0.080 14 73198048 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: rs63750550
rs63750550 		1.000 0.080 14 73173576 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: rs63750569
rs63750569 		0.925 0.080 14 73192711 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: rs63750577
rs63750577 		0.827 0.120 14 73186881 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 20 1995 2018
dbSNP: rs63750588
rs63750588 		0.925 0.080 14 73173687 missense variant T/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: rs63750599
rs63750599 		0.827 0.160 14 73170963 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: rs63750601
rs63750601 		0.882 0.080 14 73170995 missense variant 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: rs63750646
rs63750646 		0.807 0.120 14 73217147 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: rs63750730
rs63750730 		0.827 0.120 14 73173574 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: rs63751416
rs63751416 		0.925 0.080 14 73217170 missense variant 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: 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: 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: 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