rs63750590, PSEN1

N. diseases: 10
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 0.120 14 73186860 missense variant A/G snv 0.800 1.000 24 1995 2018
ACNE INVERSA, FAMILIAL, 3
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
15 0.790 0.120 14 73186860 missense variant A/G snv 0.700 0
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.790 0.120 14 73186860 missense variant A/G snv 0.700 0
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.790 0.120 14 73186860 missense variant A/G snv 0.700 0
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.790 0.120 14 73186860 missense variant A/G snv 0.020 1.000 2 1996 2007
Familial Alzheimer's disease of early onset
33 0.790 0.120 14 73186860 missense variant A/G snv 0.020 1.000 2 1996 1997
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.790 0.120 14 73186860 missense variant A/G snv 0.010 1.000 1 1996 1996
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.790 0.120 14 73186860 missense variant A/G snv 0.010 1.000 1 2010 2010
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.790 0.120 14 73186860 missense variant A/G snv 0.010 1.000 1 2010 2010
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.120 14 73186860 missense variant A/G snv 0.010 1.000 1 2010 2010