rs63750053, PSEN1

N. diseases: 5
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 0.827 0.120 14 73192721 missense variant G/T snv 0.800 1.000 32 1995 2018
ACNE INVERSA, FAMILIAL, 3
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
15 0.827 0.120 14 73192721 missense variant G/T snv 0.700 1.000 9 1998 2017
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.827 0.120 14 73192721 missense variant G/T snv 0.700 1.000 9 1998 2017
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.827 0.120 14 73192721 missense variant G/T snv 0.700 1.000 9 1998 2017
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.827 0.120 14 73192721 missense variant G/T snv 0.010 1.000 1 1999 1999