PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
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: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
Nervous System Diseases; Mental Disorders 0.050 1.000 5 1997 2018
dbSNP: rs63749884
rs63749884
0.851 0.160 1 226888979 missense variant G/A snv
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
Nervous System Diseases; Mental Disorders 0.040 1.000 4 2000 2012
dbSNP: rs1215971988
rs1215971988
1.000 0.080 1 226885618 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs140501902
rs140501902
0.807 0.160 1 226883774 missense variant C/T snv 3.6E-03 3.4E-03
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs1482790603
rs1482790603
1.000 0.080 1 226891284 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs202178897
rs202178897
1.000 0.080 1 226885596 missense variant G/A;T snv 1.2E-04; 4.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs28936379
rs28936379
0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs28936380
rs28936380
0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs58973334
rs58973334
0.882 0.080 1 226883748 missense variant G/A snv 8.6E-03 1.4E-02
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs778936527
rs778936527
0.925 0.080 1 226885669 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
Nervous System Diseases; Mental Disorders 0.010 1.000 1 1996 1996