rs63750215, PSEN2

N. diseases: 19
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 4
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
13 0.701 0.240 1 226885603 missense variant A/T snv 0.800 1.000 26 1995 2015
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.701 0.240 1 226885603 missense variant A/T snv 0.100 1.000 13 1997 2018
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.701 0.240 1 226885603 missense variant A/T snv 0.050 1.000 5 1997 2010
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.701 0.240 1 226885603 missense variant A/T snv 0.050 1.000 5 1997 2018
Dementia
CUI: C0497327
Disease: Dementia
176 0.701 0.240 1 226885603 missense variant A/T snv 0.020 1.000 2 2006 2008
Familial Alzheimer's disease of early onset
33 0.701 0.240 1 226885603 missense variant A/T snv 0.020 1.000 2 1997 2015
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.701 0.240 1 226885603 missense variant A/T snv 0.020 1.000 2 2006 2008
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
243 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2010 2010
Amyloid angiopathy
CUI: C2931784
Disease: Amyloid angiopathy
3 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 1998 1998
Behavioral Symptoms
CUI: C0004941
Disease: Behavioral Symptoms
9 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2015 2015
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 1997 1997
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 1997 1997
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2005 2005
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2017 2017
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2017 2017
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2017 2017
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 1997 1997
Rapidly progressive dementia
CUI: C1847651
Disease: Rapidly progressive dementia
4 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2015 2015
Senile Plaques
CUI: C0333463
Disease: Senile Plaques
21 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2000 2000