rs63750907, PSEN1

N. diseases: 6
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 0.807 0.120 14 73173667 missense variant C/T snv 0.700 0
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.807 0.120 14 73173667 missense variant C/T snv 0.010 1.000 1 2015 2015
Aphasia, Expressive
CUI: C0917814
Disease: Aphasia, Expressive
1 0.807 0.120 14 73173667 missense variant C/T snv 0.010 1.000 1 2015 2015
Dementia
CUI: C0497327
Disease: Dementia
176 0.807 0.120 14 73173667 missense variant C/T snv 0.010 1.000 1 2015 2015
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.807 0.120 14 73173667 missense variant C/T snv 0.010 1 2019 2019
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.807 0.120 14 73173667 missense variant C/T snv 0.010 1.000 1 2015 2015