PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Disease: Alzheimer's Disease ×
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: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.100 1.000 13 1997 2018
dbSNP: rs533813519
rs533813519 		0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2015 2019
dbSNP: rs63749884
rs63749884 		0.851 0.160 1 226888979 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2000 2012
dbSNP: rs140501902
rs140501902 		0.807 0.160 1 226883774 missense variant C/T snv 3.6E-03 3.4E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs200169735
rs200169735 		0.925 0.080 1 226895498 missense variant C/G;T snv 4.0E-06; 2.8E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs28936379
rs28936379 		0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs28936380
rs28936380 		0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs574125890
rs574125890 		1.000 0.080 1 226888902 missense variant G/A;T snv 4.0E-06; 2.4E-04
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs58973334
rs58973334 		0.882 0.080 1 226883748 missense variant G/A snv 8.6E-03 1.4E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs61761208
rs61761208 		0.882 0.080 1 226885602 missense variant A/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs778936527
rs778936527 		0.925 0.080 1 226885669 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 1996 1996
dbSNP: rs8383
rs8383 		0.925 0.080 1 226895849 3 prime UTR variant C/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012