rs63750306, PSEN1

N. diseases: 17
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 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.800 1.000 24 1995 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.100 1.000 10 2001 2017
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.090 1.000 9 1997 2013
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.050 1.000 5 1998 2013
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.050 1.000 5 1998 2013
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.050 1.000 5 1998 2013
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2016 2016
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2017 2017
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
47 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2004 2004
Dysexecutive syndrome
CUI: C3840049
Disease: Dysexecutive syndrome
2 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2017 2017
Familial Alzheimer's disease of early onset
33 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 1998 1998
Familial Dementia
CUI: C0751071
Disease: Familial Dementia
5 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2013 2013
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2013 2013
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2004 2004
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2005 2005
Refractory anemias
CUI: C0002893
Disease: Refractory anemias
11 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 1998 1998
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
2387 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 1998 1998