rs533813519, 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's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05 0.030 1.000 3 2015 2019
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05 0.010 1.000 1 2018 2018
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
124 0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05 0.010 1.000 1 2018 2018
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05 0.010 1.000 1 2015 2015
Language Disorders
CUI: C0023015
Disease: Language Disorders
25 0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05 0.010 1.000 1 2019 2019