rs17125721, PSEN1

N. diseases: 14
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, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.040 0.500 4 2000 2013
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.090 1.000 9 1998 2019
Dementia
CUI: C0497327
Disease: Dementia
176 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.010 1.000 1 2019 2019
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.010 1.000 1 2000 2000
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.050 1.000 5 2000 2017
Familial Alzheimer's disease of early onset
33 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.020 0.500 2 1998 2004
Forgetful
CUI: C0542476
Disease: Forgetful
18 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.010 1.000 1 2002 2002
Frontotemporal Lobar Degeneration
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
54 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.010 1 2013 2013
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.020 1.000 2 2002 2013
Memory impairment
CUI: C0233794
Disease: Memory impairment
48 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.010 1.000 1 2002 2002
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.020 1.000 2 2002 2013
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.010 1 2005 2005
Personality Change
CUI: C0240735
Disease: Personality Change
6 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.010 1.000 1 2005 2005
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.020 1.000 2 2005 2019