rs63750231, PSEN1

N. diseases: 23
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 0.689 0.160 14 73198100 missense variant A/C;G snv 0.800 1.000 29 1995 2018
ACNE INVERSA, FAMILIAL, 3
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
15 0.689 0.160 14 73198100 missense variant A/C;G snv 0.700 1.000 6 1995 2017
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.689 0.160 14 73198100 missense variant A/C;G snv 0.700 1.000 6 1995 2017
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.689 0.160 14 73198100 missense variant A/C;G snv 0.700 1.000 6 1995 2017
ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
CUI: C4015780
Disease: ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
2 0.689 0.160 14 73198100 missense variant A/C;G snv 0.700 0
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.689 0.160 14 73198100 missense variant A/C;G snv 0.100 0.955 22 1997 2020
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.689 0.160 14 73198100 missense variant A/C;G snv 0.100 1.000 14 1996 2019
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.689 0.160 14 73198100 missense variant A/C;G snv 0.050 1.000 5 1997 2016
Dementia
CUI: C0497327
Disease: Dementia
176 0.689 0.160 14 73198100 missense variant A/C;G snv 0.030 1.000 3 2000 2016
Familial Alzheimer's disease of early onset
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
33 0.689 0.160 14 73198100 missense variant A/C;G snv 0.030 1.000 3 2011 2019
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.689 0.160 14 73198100 missense variant A/C;G snv 0.030 1.000 3 2000 2016
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.689 0.160 14 73198100 missense variant A/C;G snv 0.020 1.000 2 2012 2013
Mild cognitive disorder
CUI: C1270972
Disease: Mild cognitive disorder
96 0.689 0.160 14 73198100 missense variant A/C;G snv 0.020 1.000 2 2016 2016
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2019 2019
Brain atrophy
CUI: C4551584
Disease: Brain atrophy
46 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2012 2012
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2011 2011
Cerebellar Diseases
CUI: C0007760
Disease: Cerebellar Diseases
4 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2014 2014
Cerebral cortical atrophy
CUI: C4551583
Disease: Cerebral cortical atrophy
13 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2013 2013
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2004 2004
Epileptic Seizures
CUI: C4317109
Disease: Epileptic Seizures
7 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2004 2004
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2012 2012
Mental disorders
CUI: C0004936
Disease: Mental disorders
149 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2019 2019
Seizures
CUI: C0036572
Disease: Seizures
553 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2004 2004