rs63750900, PSEN1

N. diseases: 9
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 0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 10 1996 2017
ACNE INVERSA, FAMILIAL, 3
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
15 0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 6 1996 2017
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 6 1996 2017
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 6 1996 2017
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
Dementia
CUI: C0497327
Disease: Dementia
176 0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
2672 0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1 2019 2019
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997