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: rs63750391
rs63750391 		0.882 0.160 14 73173665 missense variant G/A;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: 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: rs63751441
rs63751441 		0.882 0.080 14 73173684 missense variant C/G;T snv 5.2E-05
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0
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: rs63751292
rs63751292 		1.000 0.080 14 73173688 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 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: rs63750590
rs63750590 		0.790 0.120 14 73186860 missense variant A/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: rs63751484
rs63751484 		0.925 0.080 14 73186867 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 0
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: 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: rs63751210
rs63751210 		0.882 0.080 14 73186878 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: 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: rs63750963
rs63750963 		0.925 0.080 14 73186884 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: 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: rs63751144
rs63751144 		1.000 0.080 14 73186892 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 0
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: 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: 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: 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: 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: 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: 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
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: 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: rs63750861
rs63750861 		1.000 0.080 14 73192732 missense variant A/C;T snv
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		Nervous System Diseases; Mental Disorders 0.700 0