rs63750083, PSEN1

N. diseases: 9
Source: BEFREE ×
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's Disease
CUI: C0002395
Disease: Alzheimer's Disease
968 0.732 0.160 14 73219177 missense variant C/A;T snv 0.030 1.000 3 2002 2019
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
94 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1.000 1 2006 2006
Dementia
CUI: C0497327
Disease: Dementia
165 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1.000 1 2019 2019
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1.000 1 2006 2006
Familial Alzheimer's disease of early onset
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
33 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1.000 1 2006 2006
Learning Disabilities
CUI: C0751265
Disease: Learning Disabilities
3 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1.000 1 2019 2019
Mild cognitive disorder
CUI: C1270972
Disease: Mild cognitive disorder
94 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1.000 1 2002 2002
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
15 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1 2016 2016
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1.000 1 2019 2019