rs63751037, PSEN1

N. diseases: 7
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 0.790 0.080 14 73173642 missense variant A/G snv 0.800 1.000 4 2010 2014
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.790 0.080 14 73173642 missense variant A/G snv 0.020 1.000 2 1998 2003
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.790 0.080 14 73173642 missense variant A/G snv 0.020 2 1997 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.790 0.080 14 73173642 missense variant A/G snv 0.010 1.000 1 2003 2003
Dementia
CUI: C0497327
Disease: Dementia
176 0.790 0.080 14 73173642 missense variant A/G snv 0.010 1.000 1 1998 1998
Frontal lobe syndrome
CUI: C0549117
Disease: Frontal lobe syndrome
3 0.790 0.080 14 73173642 missense variant A/G snv 0.010 1.000 1 2003 2003
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.790 0.080 14 73173642 missense variant A/G snv 0.010 1.000 1 1998 1998