PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
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: rs165932
rs165932
0.925 0.080 14 73198145 intron variant G/A;T snv 0.61
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2006 2008
dbSNP: rs765670175
rs765670175
0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs906454643
rs906454643
0.882 0.080 14 73217219 missense variant T/C snv 4.0E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs115865530
rs115865530
0.925 0.080 14 73206449 missense variant A/G snv 1.4E-04 4.2E-05
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017