rs28936380, PSEN2

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
ALZHEIMER DISEASE 4
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
13 0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05 0.800 1.000 17 1995 2014
Dementia
CUI: C0497327
Disease: Dementia
176 0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05 0.020 1.000 2 2003 2005
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05 0.020 1.000 2 2003 2005
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2011 2011
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2005 2005