rs63751287, 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 0.742 0.120 14 73192792 missense variant A/G;T snv 0.800 1.000 3 2001 2018
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.742 0.120 14 73192792 missense variant A/G;T snv 0.710 1.000 4 2001 2018
ACNE INVERSA, FAMILIAL, 3
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
15 0.742 0.120 14 73192792 missense variant A/G;T snv 0.700 1.000 3 2001 2018
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.742 0.120 14 73192792 missense variant A/G;T snv 0.700 1.000 3 2001 2018
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.742 0.120 14 73192792 missense variant A/G;T snv 0.010 1.000 1 2001 2001
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.742 0.120 14 73192792 missense variant A/G;T snv 0.010 1.000 1 2017 2017
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.742 0.120 14 73192792 missense variant A/G;T snv 0.010 1.000 1 2017 2017
Dementia
CUI: C0497327
Disease: Dementia
176 0.742 0.120 14 73192792 missense variant A/G;T snv 0.010 1.000 1 2015 2015
Dysexecutive syndrome
CUI: C3840049
Disease: Dysexecutive syndrome
2 0.742 0.120 14 73192792 missense variant A/G;T snv 0.010 1.000 1 2017 2017
Familial Alzheimer's disease of early onset
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
33 0.742 0.120 14 73192792 missense variant A/G;T snv 0.010 1.000 1 2015 2015
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.742 0.120 14 73192792 missense variant A/G;T snv 0.010 1.000 1 2019 2019
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.742 0.120 14 73192792 missense variant A/G;T snv 0.010 1.000 1 2019 2019
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
30 0.742 0.120 14 73192792 missense variant A/G;T snv 0.010 1.000 1 2015 2015