rs63750082, PSEN1

N. diseases: 13
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, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
124 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.800 1.000 31 1995 2018
ACNE INVERSA, FAMILIAL, 3
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
15 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.700 1.000 8 2001 2017
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.700 1.000 8 2001 2017
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.700 1.000 8 2001 2017
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.030 1.000 3 2001 2019
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2008 2008
Argyrophilic grain disease
CUI: C0338460
Disease: Argyrophilic grain disease
7 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2013 2013
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
47 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2008 2008
Dementia
CUI: C0497327
Disease: Dementia
176 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2013 2013
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2015 2015
Familial Alzheimer's disease of early onset
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
33 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2002 2002
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2008 2008
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2013 2013