rs63749824, PSEN1

N. diseases: 8
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 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.800 1.000 4 2010 2014
ACNE INVERSA, FAMILIAL, 3
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
15 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.030 1.000 3 2016 2016
Dementia
CUI: C0497327
Disease: Dementia
176 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.020 1.000 2 2007 2016
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.020 1.000 2 2007 2016
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 1 2007 2007