rs63751223, 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 0.160 14 73219161 missense variant G/C snv 0.800 1.000 4 2010 2014
ACNE INVERSA, FAMILIAL, 3
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
15 0.807 0.160 14 73219161 missense variant G/C snv 0.700 0
Cardiomyopathy, Dilated, 1u
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
3 0.807 0.160 14 73219161 missense variant G/C snv 0.700 0
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.807 0.160 14 73219161 missense variant G/C snv 0.700 0
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.807 0.160 14 73219161 missense variant G/C snv 0.700 0
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.807 0.160 14 73219161 missense variant G/C snv 0.010 1.000 1 2007 2007